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<!--
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||
UID=220882
|
||
ConceptID=C1273957
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Upper limb spasticity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220882</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1273957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Spasticity of the upper limbs</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Upper limb spasticity (394680009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006986">HP:0006986</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1273957[DISCUI]&test_type=Clinical" ref="ncbi_uid=220882">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=220882" ref="ncbi_uid=220882">V</a></span></span><span class="TLline">Upper limb spasticity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488941" ref="tree=MeSH" title="MedGen record for Abnormal muscle tone">Abnormal muscle tone</a></span><ul><li><span class="TLline"><a href="/medgen/10132" ref="tree=MeSH" title="MedGen record for Hypertonia">Hypertonia</a></span><ul><li><span class="TLline"><a href="/medgen/7753" ref="tree=MeSH" title="MedGen record for Spasticity">Spasticity</a></span><ul><li><span class="TLline"><a href="/medgen/937224" ref="tree=MeSH" title="MedGen record for Appendicular spasticity">Appendicular spasticity</a></span><ul><li><span class="matched_ds">Upper limb spasticity</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_97950"><div><strong>Troyer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0393559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, pseudobulbar palsy, distal amyotrophy, short stature, and subtle skeletal abnormalities. Most affected children exhibit delays in walking and speech and difficulty in managing oral secretions, followed by increased lower-limb spasticity and slow deterioration in both gait and speech. Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Emotional lability / difficulty in controlling emotions and affective disorders, such as inappropriate euphoria and/or crying, are frequently described. Life expectancy is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/97950">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373138"><div><strong>Hereditary spastic paraplegia 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373138</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339552"><div><strong>Hereditary spastic paraplegia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339552</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1846564</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral leg weakness and spasticity. Most affected individuals have decreased vibration sense and cerebellar signs. Onset is mostly in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years. Additional features including ataxia (gait and limbs), spastic dysarthria, dysphagia, pale optic disks, ataxia, nystagmus, strabismus, ptosis, hearing loss, motor and sensory neuropathy, amyotrophy, scoliosis, pes cavus, and urinary sphincter disturbances may be observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376521"><div><strong>Hereditary spastic paraplegia 5A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376521</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by Arnoldi et al., 2012). The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur. Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia Autosomal recessive forms of SPG include SPG7 (607259), caused by mutation in the paraplegin gene (602783) on chromosome 16q24; SPG9B (616586), caused by mutation in the ALDH18A1 gene (138250) on 10q24; SPG11 (604360), caused by mutation in the spatacsin gene (610844) on 15q21; SPG15 (270700), caused by mutation in the ZFYVE26 gene (612012) on 14q24; SPG18 (611225), caused by mutation in the ERLIN2 gene (611605) on 8p11; SPG20 (275900), caused by mutation in the spartin gene (607111) on 13q12; SPG21 (248900), caused by mutation in the maspardin gene (608181) on 15q21; SPG26 (609195), caused by mutation in the B4GALNT1 gene (601873) on 12q13; SPG28 (609340), caused by mutation in the DDHD1 gene (614603) on 14q22; SPG30 (610357), caused by mutation in the KIF1A gene (601255) on 2q37; SPG35 (612319), caused by mutation in the FA2H gene (611026) on 16q23; SPG39 (612020), caused by mutation in the PNPLA6 gene (603197) on 19p13; SPG43 (615043), caused by mutation in the C19ORF12 gene (614297) on 19q12; SPG44 (613206), caused by mutation in the GJC2 gene (608803) on 1q42; SPG45 (613162), caused by mutation in the NT5C2 gene (600417) on 10q24; SPG46 (614409), caused by mutation in the GBA2 gene (609471) on 9p13; SPG48 (613647), caused by mutation in the KIAA0415 gene (613653) on 7p22; SPG50 (612936), caused by mutation in the AP4M1 gene (602296) on 7q22; SPG51 (613744), caused by mutation in the AP4E1 gene (607244) on 15q21; SPG52 (614067), caused by mutation in the AP4S1 gene (607243) on 14q12; SPG53 (614898), caused by mutation in the VPS37A gene (609927) on 8p22; SPG54 (615033), caused by mutation in the DDHD2 gene (615003) on 8p11; SPG55 (615035), caused by mutation in the MTRFR gene on 12q24; SPG56 (615030), caused by mutation in the CYP2U1 gene (610670) on 4q25; SPG57 (615658), caused by mutation in the TFG gene (602498) on 3q12; SPG61 (615685), caused by mutation in the ARL6IP1 gene (607669) on 1p12; SPG62 (615681), caused by mutation in the ERLIN1 gene on 10q24; SPG63 (615686), caused by mutation in the AMPD2 gene (102771) on 1p13; SPG64 (615683), caused by mutation in the ENTPD1 gene (601752) on 10q24; SPG72 (615625), caused by mutation in the REEP2 gene (609347) on 5q31; SPG74 (616451), caused by mutation in the IBA57 gene (615316) on 1q42; SPG75 (616680), caused by mutation in the MAG gene (159460) on 19q13; SPG76 (616907), caused by mutation in the CAPN1 gene (114220) on 11q13; SPG77 (617046), caused by mutation in the FARS2 gene (611592) on 6p25; SPG78 (617225), caused by mutation in the ATP13A2 gene (610513) on 1p36; SPG79 (615491), caused by mutation in the UCHL1 gene (191342) on 4p13; SPG81 (618768), caused by mutation in the SELENOI gene (607915) on 2p23; SPG82 (618770), caused by mutation in the PCYT2 gene (602679) on 17q25; SPG83 (619027), caused by mutation in the HPDL gene (618994) on 1p34; SPG84 (619621), caused by mutation in the PI4KA gene (600286) on 22q11; SPG85 (619686), caused by mutation in the RNF170 gene (614649) on 8p11; SPG86 (619735), caused by mutation in the ABHD16A gene (142620) on 6p21; SPG87 (619966), caused by mutation in the TMEM63C gene (619953) on 14q24; SPG89 (620379), caused by mutation in the AMFR gene (603243) on 16q13; SPG90B (620417), caused by mutation in the SPTSSA gene (613540) on 14q13; SPG92 (620911), caused by mutation in the FICD gene (620875) on chromosome 12q23; and SPG93 (620938), caused by mutation in the NFU1 gene (608100) on chromosome 2p13. Additional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; 605229), 13q14 (SPG24; 607584), 6q (SPG25; 608220), and 10q22 (SPG27; 609041). A disorder that was formerly designated SPG49 has been reclassified as hereditary sensory and autonomic neuropathy-9 with developmental delay (HSAN9; 615031).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376521">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_346682"><div><strong>Hereditary spastic paraplegia 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346682</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A complex form of hereditary spastic paraplegia characterised by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraoesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/346682">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_349246"><div><strong>Amyotrophic lateral sclerosis type 2, juvenile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349246</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349246">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400359"><div><strong>Hereditary spastic paraplegia 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400359</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1863704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings). Some affected individuals have urinary urgency that usually becomes apparent at the same time as the spasticity. Onset is between ages ten and 59 years. Affected individuals often become wheelchair dependent. While intra- and interfamilial phenotypic variability is high, SPG8 is typically more severe than other types of hereditary spastic paraplegia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400359">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_370596"><div><strong>Pontocerebellar hypoplasia type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370596</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1969084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/370596">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_442343"><div><strong>Hereditary spastic paraplegia 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442343</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2749936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spastic paraplegia-18B (SPG18B) is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/442343">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_413042"><div><strong>Hereditary spastic paraplegia 44</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413042</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">A very rare, complex form of hereditary spastic paraplegia characterised by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leucodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/413042">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_473687"><div><strong>Hereditary spastic paraplegia 46</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473687</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2828721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/473687">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_422458"><div><strong>Hereditary spastic paraplegia 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2936880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/422458">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462705"><div><strong>Megalencephalic leukoencephalopathy with subcortical cysts 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/462705">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_761341"><div><strong>Hereditary spastic paraplegia 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761341</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3539495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Spastic paraplegia-54 (SPG54) is a complicated form of spastic paraplegia, a neurodegenerative disorder affecting fibers of the corticospinal tract. Affected individuals have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak (summary by Schuurs-Hoeijmakers et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/761341">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1682111"><div><strong>Spastic paraplegia 80, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682111</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by Farazi Fard et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1682111">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1673011"><div><strong>Developmental and epileptic encephalopathy, 76</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673011</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Developmental and epileptic encephalopathy-76 (DEE76) is an autosomal recessive neurodevelopmental disorder characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging, mainly cerebral atrophy and delayed myelination. Some patients may have additional features, such as scoliosis or microcephaly. The disorder may result in death in childhood (summary by Bell et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1673011">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1711668"><div><strong>Spastic paraplegia 81, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711668</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394033</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Spastic paraplegia-81 (SPG81) is an autosomal recessive neurologic disorder with onset in infancy. Affected individuals have delayed motor development, progressive spasticity, and other neurologic impairment, including impaired intellectual development and speech delay. Some patients may have additional features, including bifid uvula, microcephaly, seizures, and variable ocular anomalies. One severely affected patient was reported to have cortical visual loss, sensorineural deafness, and achievement of almost no developmental milestones. Brain imaging shows white matter abnormalities, hypomyelination with progressive white matter loss, and sometimes cerebral atrophy. These significant additional abnormalities enable classification of this disorder as a complicated form of SPG (summary by Ahmed et al., 2017 and Horibata et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1711668">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1781649"><div><strong>Kohlschutter-Tonz syndrome-like</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781649</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1781649">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794263"><div><strong>Spastic paraplegia 85, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794263</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive spastic paraplegia-85 (SPG85) is a neurologic disorder characterized by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities. Older patients may have upper limb involvement and demonstrate axonal polyneuropathy. Additional features include optic atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence. Brain imaging may show cerebellar atrophy (summary by Wagner et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794263">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1798877"><div><strong>Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798877</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5567454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1798877">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1798906"><div><strong>Autosomal recessive spastic paraplegia type 76</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798906</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5567483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798906">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1813069"><div><strong>Spastic paraplegia 87, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1813069</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spastic paraplegia-87 (SPG87) is a neurologic disorder characterized by the onset of lower limb spasticity in infancy or early childhood. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia; the upper limbs and bulbar regions are not affected. Some patients may also have mild intellectual disability or speech problems. Thus, SPG87 can manifest as either a pure or a complex disorder (Tabara et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1813069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841261"><div><strong>Megalencephalic leukoencephalopathy with subcortical cysts 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841261</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3) is a neurodegenerative disorder characterized by increased head circumference in infancy followed by progressive motor and cognitive decline in early childhood. Affected individuals either do not achieve walking or lose independent ambulation in the first or second decades. Cognitive impairment is variable and accompanied by poor speech and dysarthria. Most patients have early-onset seizures, which may be mild or refractory. Brain imaging shows unremitting megalencephalic leukoencephalopathy with subcortical cysts and swelling of the cerebral white matter (Passchier et al., 2023). For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841261">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1844217"><div><strong>Spastic paraplegia 18a, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844217</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-18A (SPG18A) is an autosomal dominant disorder characterized by a pure form of hereditary spastic paraplegia phenotype (summary by Rydning et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1844217">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1851662"><div><strong>Spastic ataxia 10, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851662</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spastic ataxia-10 (SPAX10) is a slowly progressive movement disorder with a variable age at onset (range infancy to adulthood). Affected individuals present with gait abnormalities due to spasticity and hyperreflexia of the lower limbs and/or cerebellar gait and limb ataxia. More variable features may include dysarthria, saccadic eye movements, and mild cognitive impairment. Some patients show cerebellar atrophy on brain imaging. The disorder can be classified as a movement disorder on the ataxia-spasticity spectrum (ASS) (Cordts et al., 2022). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1851662">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861832"><div><strong>Neurodevelopmental disorder with progressive movement abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861832</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, moderately to severely impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function; parkinsonism may develop in older patients. Additional more variable features include seizures, dysmorphic facial features, oculomotor defects, and brain imaging abnormalities (Kaiyrzhanov et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861832">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 2, juvenile</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spastic paraplegia type 76</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1673011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 76</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798877" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 18</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 26</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 44</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_473687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 46</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 54</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 5A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kohlschutter-Tonz syndrome-like</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephalic leukoencephalopathy with subcortical cysts 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephalic leukoencephalopathy with subcortical cysts 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with progressive movement abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1851662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 10, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844217" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 18a, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 80, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 81, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 85, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1813069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 87, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_97950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Troyer syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37717178">Expert consensus on the surgical evaluation and management of upper extremity spasticity in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crowe CS,
|
||
Pino PA,
|
||
Rhee PC;
|
||
Upper Extremity Spasticity Working Group</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2023 Nov;48(10):986-997.
|
||
Epub 2023 Sep 17
|
||
doi: 10.1177/17531934231192843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37717178" target="_blank">37717178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36254447">Brazilian practice guidelines for stroke rehabilitation: Part II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minelli C,
|
||
Luvizutto GJ,
|
||
Cacho RO,
|
||
Neves LO,
|
||
Magalhães SCSA,
|
||
Pedatella MTA,
|
||
Mendonça LIZ,
|
||
Ortiz KZ,
|
||
Lange MC,
|
||
Ribeiro PW,
|
||
Souza LAPS,
|
||
Milani C,
|
||
Cruz DMCD,
|
||
Costa RDMD,
|
||
Conforto AB,
|
||
Carvalho FMM,
|
||
Ciarlini BS,
|
||
Frota NAF,
|
||
Almeida KJ,
|
||
Schochat E,
|
||
Oliveira TP,
|
||
Miranda C,
|
||
Piemonte MEP,
|
||
Lopes LCG,
|
||
Lopes CG,
|
||
Tosin MHS,
|
||
Oliveira BC,
|
||
Oliveira BGRB,
|
||
Castro SS,
|
||
Andrade JBC,
|
||
Silva GS,
|
||
Pontes-Neto OM,
|
||
Carvalho JJF,
|
||
Martins SCO,
|
||
Bazan R</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2022 Jul;80(7):741-758.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1055/s-0042-1757692.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36254447" target="_blank">36254447</a><a href="/pmc/articles/PMC9685826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164716">Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache: Report of the Guideline Development Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson DM,
|
||
Hallett M,
|
||
Ashman EJ,
|
||
Comella CL,
|
||
Green MW,
|
||
Gronseth GS,
|
||
Armstrong MJ,
|
||
Gloss D,
|
||
Potrebic S,
|
||
Jankovic J,
|
||
Karp BP,
|
||
Naumann M,
|
||
So YT,
|
||
Yablon SA</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 May 10;86(19):1818-26.
|
||
Epub 2016 Apr 18
|
||
doi: 10.1212/WNL.0000000000002560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164716" target="_blank">27164716</a><a href="/pmc/articles/PMC4862245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22upper%20limb%20spasticity%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (49)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37235581">The effectiveness of radial extracorporeal shock wave therapy vs transcutaneous electrical nerve stimulation in the management of upper limb spasticity in chronic-post stroke hemiplegia-A randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senarath ID,
|
||
Thalwathte RD,
|
||
Pathirage M,
|
||
Kularatne SAM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0283321.
|
||
Epub 2023 May 26
|
||
doi: 10.1371/journal.pone.0283321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37235581" target="_blank">37235581</a><a href="/pmc/articles/PMC10218748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33206382">Efficacy and safety of abobotulinumtoxinA for upper limb spasticity in children with cerebral palsy: a randomized repeat-treatment study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delgado MR,
|
||
Tilton A,
|
||
Carranza-Del Río J,
|
||
Dursun N,
|
||
Bonikowski M,
|
||
Aydin R,
|
||
Maciag-Tymecka I,
|
||
Oleszek J,
|
||
Dabrowski E,
|
||
Grandoulier AS,
|
||
Picaut P;
|
||
Dysport in PUL study group</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 May;63(5):592-600.
|
||
Epub 2020 Nov 18
|
||
doi: 10.1111/dmcn.14733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33206382" target="_blank">33206382</a><a href="/pmc/articles/PMC8048784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30745061">Predictors of upper limb spasticity after stroke? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tedesco Triccas L,
|
||
Kennedy N,
|
||
Smith T,
|
||
Pomeroy V</span><br />
|
||
<span class="medgenPMjournal">Physiotherapy</span>
|
||
2019 Jun;105(2):163-173.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1016/j.physio.2019.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30745061" target="_blank">30745061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30452892">Effect of Transcutaneous Electrical Nerve Stimulation on Spasticity in Adults With Stroke: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmood A,
|
||
Veluswamy SK,
|
||
Hombali A,
|
||
Mullick A,
|
||
N M,
|
||
Solomon JM</span><br />
|
||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
|
||
2019 Apr;100(4):751-768.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1016/j.apmr.2018.10.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30452892" target="_blank">30452892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27530616">IncobotulinumtoxinA: A Review in Upper Limb Spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamb YN,
|
||
Scott LJ</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2016 Sep;76(14):1373-9.
|
||
doi: 10.1007/s40265-016-0630-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27530616" target="_blank">27530616</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20spasticity%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (166)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37992866">The upper limb in children with cerebral palsy. Evaluation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitoussi F,
|
||
Lallemant-Dudek P</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2024 Feb;110(1S):103763.
|
||
Epub 2023 Nov 20
|
||
doi: 10.1016/j.otsr.2023.103763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37992866" target="_blank">37992866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37717178">Expert consensus on the surgical evaluation and management of upper extremity spasticity in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crowe CS,
|
||
Pino PA,
|
||
Rhee PC;
|
||
Upper Extremity Spasticity Working Group</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2023 Nov;48(10):986-997.
|
||
Epub 2023 Sep 17
|
||
doi: 10.1177/17531934231192843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37717178" target="_blank">37717178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32937973">Robot-Aided Systems for Improving the Assessment of Upper Limb Spasticity: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de-la-Torre R,
|
||
Oña ED,
|
||
Balaguer C,
|
||
Jardón A</span><br />
|
||
<span class="medgenPMjournal">Sensors (Basel)</span>
|
||
2020 Sep 14;20(18)
|
||
doi: 10.3390/s20185251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32937973" target="_blank">32937973</a><a href="/pmc/articles/PMC7570987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28286053">OnabotulinumtoxinA for Lower Limb Spasticity: Guidance From a Delphi Panel Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esquenazi A,
|
||
Alfaro A,
|
||
Ayyoub Z,
|
||
Charles D,
|
||
Dashtipour K,
|
||
Graham GD,
|
||
McGuire JR,
|
||
Odderson IR,
|
||
Patel AT,
|
||
Simpson DM</span><br />
|
||
<span class="medgenPMjournal">PM R</span>
|
||
2017 Oct;9(10):960-968.
|
||
Epub 2017 Mar 7
|
||
doi: 10.1016/j.pmrj.2017.02.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28286053" target="_blank">28286053</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25150661">Upper limb casting in stroke rehabilitation: rationale, options, and techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flinn SR,
|
||
Craven K</span><br />
|
||
<span class="medgenPMjournal">Top Stroke Rehabil</span>
|
||
2014 Jul-Aug;21(4):296-302.
|
||
doi: 10.1310/tsr2104-296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25150661" target="_blank">25150661</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20spasticity%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (57)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33206382">Efficacy and safety of abobotulinumtoxinA for upper limb spasticity in children with cerebral palsy: a randomized repeat-treatment study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delgado MR,
|
||
Tilton A,
|
||
Carranza-Del Río J,
|
||
Dursun N,
|
||
Bonikowski M,
|
||
Aydin R,
|
||
Maciag-Tymecka I,
|
||
Oleszek J,
|
||
Dabrowski E,
|
||
Grandoulier AS,
|
||
Picaut P;
|
||
Dysport in PUL study group</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 May;63(5):592-600.
|
||
Epub 2020 Nov 18
|
||
doi: 10.1111/dmcn.14733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33206382" target="_blank">33206382</a><a href="/pmc/articles/PMC8048784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582986">Effectiveness of static stretching positioning on post-stroke upper-limb spasticity and mobility: Systematic review with meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salazar AP,
|
||
Pinto C,
|
||
Ruschel Mossi JV,
|
||
Figueiro B,
|
||
Lukrafka JL,
|
||
Pagnussat AS</span><br />
|
||
<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
|
||
2019 Jul;62(4):274-282.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1016/j.rehab.2018.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582986" target="_blank">30582986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30452892">Effect of Transcutaneous Electrical Nerve Stimulation on Spasticity in Adults With Stroke: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmood A,
|
||
Veluswamy SK,
|
||
Hombali A,
|
||
Mullick A,
|
||
N M,
|
||
Solomon JM</span><br />
|
||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
|
||
2019 Apr;100(4):751-768.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1016/j.apmr.2018.10.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30452892" target="_blank">30452892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30286960">Nonsurgical Treatment Options for Upper Limb Spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Black L,
|
||
Gaebler-Spira D</span><br />
|
||
<span class="medgenPMjournal">Hand Clin</span>
|
||
2018 Nov;34(4):455-464.
|
||
Epub 2018 Aug 18
|
||
doi: 10.1016/j.hcl.2018.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30286960" target="_blank">30286960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164716">Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache: Report of the Guideline Development Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson DM,
|
||
Hallett M,
|
||
Ashman EJ,
|
||
Comella CL,
|
||
Green MW,
|
||
Gronseth GS,
|
||
Armstrong MJ,
|
||
Gloss D,
|
||
Potrebic S,
|
||
Jankovic J,
|
||
Karp BP,
|
||
Naumann M,
|
||
So YT,
|
||
Yablon SA</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 May 10;86(19):1818-26.
|
||
Epub 2016 Apr 18
|
||
doi: 10.1212/WNL.0000000000002560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164716" target="_blank">27164716</a><a href="/pmc/articles/PMC4862245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20spasticity%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (225)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30745061">Predictors of upper limb spasticity after stroke? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tedesco Triccas L,
|
||
Kennedy N,
|
||
Smith T,
|
||
Pomeroy V</span><br />
|
||
<span class="medgenPMjournal">Physiotherapy</span>
|
||
2019 Jun;105(2):163-173.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1016/j.physio.2019.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30745061" target="_blank">30745061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28870058">Technologically-advanced assessment of upper-limb spasticity: a pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Posteraro F,
|
||
Crea S,
|
||
Mazzoleni S,
|
||
Berteanu M,
|
||
Ciobanu I,
|
||
Vitiello N,
|
||
Cempini M,
|
||
Gervasio S,
|
||
Mrachacz-Kersting N</span><br />
|
||
<span class="medgenPMjournal">Eur J Phys Rehabil Med</span>
|
||
2018 Aug;54(4):536-544.
|
||
Epub 2017 Sep 4
|
||
doi: 10.23736/S1973-9087.17.04815-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28870058" target="_blank">28870058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27556628">Current Uses of Botulinum Neurotoxins in Plastic Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noland ME,
|
||
Lalonde DH,
|
||
Yee GJ,
|
||
Rohrich RJ</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2016 Sep;138(3):519e-530e.
|
||
doi: 10.1097/PRS.0000000000002480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27556628" target="_blank">27556628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25995383">Lesion Characteristics of Individuals With Upper Limb Spasticity After Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung DK,
|
||
Climans SA,
|
||
Black SE,
|
||
Gao F,
|
||
Szilagyi GM,
|
||
Mochizuki G</span><br />
|
||
<span class="medgenPMjournal">Neurorehabil Neural Repair</span>
|
||
2016 Jan;30(1):63-70.
|
||
Epub 2015 May 20
|
||
doi: 10.1177/1545968315585357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25995383" target="_blank">25995383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20633180">Botulinum toxin assessment, intervention and after-care for upper limb hypertonicity in adults: international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheean G,
|
||
Lannin NA,
|
||
Turner-Stokes L,
|
||
Rawicki B,
|
||
Snow BJ;
|
||
Cerebral Palsy Institute</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2010 Aug;17 Suppl 2:74-93.
|
||
doi: 10.1111/j.1468-1331.2010.03129.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20633180" target="_blank">20633180</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20spasticity%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38115590">Improving Upper Limb Spasticity in Patients with Stroke by Electroacupuncture Therapy: a Pre- and Post-Treatment Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim SM,
|
||
Go E,
|
||
Lee J,
|
||
Lee GE,
|
||
Kim EJ,
|
||
Son C</span><br />
|
||
<span class="medgenPMjournal">J Acupunct Meridian Stud</span>
|
||
2023 Dec 31;16(6):248-254.
|
||
doi: 10.51507/j.jams.2023.16.6.248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38115590" target="_blank">38115590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34339951">IncobotulinumtoxinA Efficacy/Safety in Upper-Limb Spasticity in Pediatric Cerebral Palsy: Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dabrowski E,
|
||
Chambers HG,
|
||
Gaebler-Spira D,
|
||
Banach M,
|
||
Kaňovský P,
|
||
Dersch H,
|
||
Althaus M,
|
||
Geister TL,
|
||
Heinen F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Oct;123:10-20.
|
||
Epub 2021 May 21
|
||
doi: 10.1016/j.pediatrneurol.2021.05.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34339951" target="_blank">34339951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33206382">Efficacy and safety of abobotulinumtoxinA for upper limb spasticity in children with cerebral palsy: a randomized repeat-treatment study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delgado MR,
|
||
Tilton A,
|
||
Carranza-Del Río J,
|
||
Dursun N,
|
||
Bonikowski M,
|
||
Aydin R,
|
||
Maciag-Tymecka I,
|
||
Oleszek J,
|
||
Dabrowski E,
|
||
Grandoulier AS,
|
||
Picaut P;
|
||
Dysport in PUL study group</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 May;63(5):592-600.
|
||
Epub 2020 Nov 18
|
||
doi: 10.1111/dmcn.14733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33206382" target="_blank">33206382</a><a href="/pmc/articles/PMC8048784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30745061">Predictors of upper limb spasticity after stroke? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tedesco Triccas L,
|
||
Kennedy N,
|
||
Smith T,
|
||
Pomeroy V</span><br />
|
||
<span class="medgenPMjournal">Physiotherapy</span>
|
||
2019 Jun;105(2):163-173.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1016/j.physio.2019.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30745061" target="_blank">30745061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29960017">Does botulinum toxin treatment improve upper limb active function?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy J,
|
||
Molteni F,
|
||
Cannaviello G,
|
||
Lansaman T,
|
||
Roche N,
|
||
Bensmail D</span><br />
|
||
<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
|
||
2019 Jul;62(4):234-240.
|
||
Epub 2018 Jun 28
|
||
doi: 10.1016/j.rehab.2018.05.1320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29960017" target="_blank">29960017</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20spasticity%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (167)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35490985">Surgical interventions in adult upper limb spasticity management: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jarratt Barnham I,
|
||
Alahmadi S,
|
||
Spillane B,
|
||
Pick A,
|
||
Lamyman M</span><br />
|
||
<span class="medgenPMjournal">Hand Surg Rehabil</span>
|
||
2022 Sep;41(4):426-434.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1016/j.hansur.2022.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35490985" target="_blank">35490985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30745061">Predictors of upper limb spasticity after stroke? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tedesco Triccas L,
|
||
Kennedy N,
|
||
Smith T,
|
||
Pomeroy V</span><br />
|
||
<span class="medgenPMjournal">Physiotherapy</span>
|
||
2019 Jun;105(2):163-173.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1016/j.physio.2019.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30745061" target="_blank">30745061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582986">Effectiveness of static stretching positioning on post-stroke upper-limb spasticity and mobility: Systematic review with meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salazar AP,
|
||
Pinto C,
|
||
Ruschel Mossi JV,
|
||
Figueiro B,
|
||
Lukrafka JL,
|
||
Pagnussat AS</span><br />
|
||
<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
|
||
2019 Jul;62(4):274-282.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1016/j.rehab.2018.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582986" target="_blank">30582986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30452892">Effect of Transcutaneous Electrical Nerve Stimulation on Spasticity in Adults With Stroke: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmood A,
|
||
Veluswamy SK,
|
||
Hombali A,
|
||
Mullick A,
|
||
N M,
|
||
Solomon JM</span><br />
|
||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
|
||
2019 Apr;100(4):751-768.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1016/j.apmr.2018.10.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30452892" target="_blank">30452892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23630050">Systematic review of upper-limb function measurement methods in botulinum toxin intervention for focal spasticity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashford S,
|
||
Turner-Stokes L</span><br />
|
||
<span class="medgenPMjournal">Physiother Res Int</span>
|
||
2013 Sep;18(3):178-89.
|
||
Epub 2013 Apr 30
|
||
doi: 10.1002/pri.1554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23630050" target="_blank">23630050</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20spasticity%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1273957%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1273957%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1273957%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Upper%20limb%20spasticity" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22upper%20limb%20spasticity%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Upper%20limb%20spasticity%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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