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<!--
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UID=375612
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ConceptID=C1845245
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lower limb hypertonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375612</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.">C1845245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypertonia (in lower limbs); Hypertonia (lower limb); Hypertonia (lower limbs); Hypertonia of the lower limbs; Hypertonia, lower limbs</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:0006895">HP:0006895</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="TLline">Lower limb hypertonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870150" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the limbs">Abnormality of the musculature of the limbs</a></span><ul><li><span class="TLline"><a href="/medgen/333083" ref="tree=MeSH" title="MedGen record for Limb hypertonia">Limb hypertonia</a></span><ul><li><span class="matched_ds">Lower limb hypertonia</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_112">
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||
<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_10617"><div><strong>Pelger-Huët anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10617</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.">C0030779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by hypolobulated neutrophil nuclei with coarse chromatin (Hoffmann et al., 2002). The nucleus of the granulocytes has been described as hyposegmented, being rodlike, dumbbell- or peanut-shaped, or spectaclelike.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10617">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335139"><div><strong>Syndromic X-linked intellectual disability Claes-Jensen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335139</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.">C1845243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335139">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_339941"><div><strong>Spinocerebellar ataxia type 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339941</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.">C1853249</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339941">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349003"><div><strong>Hereditary spastic paraplegia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349003</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.">C1858712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-10 (SPG10) is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, 118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by Goizet et al., 2009 and Crimella et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462154"><div><strong>Chromosome 2p12-p11.2 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462154</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.">C3150804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462154">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462275"><div><strong>Spastic ataxia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462275</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.">C3150925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462275">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761340"><div><strong>Hereditary spastic paraplegia 53</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761340</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.">C3539494</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761340">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895943"><div><strong>Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895943</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.">C4225229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895943">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903767"><div><strong>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903767</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.">C4225396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903767">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924883"><div><strong>Spastic paraplegia, intellectual disability, nystagmus, and obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924883</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.">C4284592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924883">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934732"><div><strong>Hypermanganesemia with dystonia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934732</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.">C4310765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC39A14 deficiency is typically characterized by evidence of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance) between ages six months and three years. Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. By the end of the first decade, they develop severe, generalized, pharmaco-resistant dystonia, limb contractures, and scoliosis, and lose independent ambulation. Cognitive impairment appears to be less prominent than motor disability. Some affected children have died in their first decade due to secondary complications such as respiratory infections. One individual with disease onset during the late teens has been reported, suggesting that milder adult presentation can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934732">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1658844"><div><strong>Ferro-cerebro-cutaneous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1658844</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.">C4751570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1658844">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1676827"><div><strong>Intellectual disability-hypotonic facies syndrome, X-linked, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1676827</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.">C4759781</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1676827">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1672866"><div><strong>Spinocerebellar ataxia, autosomal recessive 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1672866</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.">C5193058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by Eidhof et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1672866">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1787833"><div><strong>Leukodystrophy, hypomyelinating, 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787833</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.">C5543406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-22 (HLD22) is a neurologic disorder characterized by global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria. Affected individuals have limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism. Brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions (Riedhammer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1787833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794176"><div><strong>Aicardi-Goutieres syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794176</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.">C5561966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aicardi-Goutieres syndrome-9 (AGS9) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure (Uggenti et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823969"><div><strong>Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823969</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.">C5774196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPO) is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus (Rahikkala et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848555"><div><strong>Developmental delay with or without epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848555</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.">C5882702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by motor delay, speech delay, and variably impaired intellectual development apparent from infancy or early childhood. Hypotonia and behavioral abnormalities are common. About half of affected individuals develop various types of seizures that are not as severe as observed in the allelic disorder DEE5. In general, the phenotype is similar to but milder than DEE5. Some individuals with DEVEP have ataxia or nystagmus associated with cerebellar atrophy on brain imaging, indicating phenotypic overlap with the allelic disorder SPG91 (Morsy et al., 2023). In a study of 31 individuals with SPTAN1 mutations, Morsy et al. (2023) delineated 3 distinct phenotypic subgroups: DEE5; a milder phenotype of developmental delay with or without seizures (DEVEP); and pure or complicated spastic paraplegia/ataxia (SPG91). Syrbe et al. (2017) similarly emphasized the remarkably broad phenotypic spectrum of neurologic disorders associated with heterozygous SPTAN1 mutations in their cohort study.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848555">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 2p12-p11.2 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with or without epilepsy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1658844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ferro-cerebro-cutaneous syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 53</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_934732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermanganesemia with dystonia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1676827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-hypotonic facies syndrome, X-linked, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1787833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelger-Huët anomaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia, intellectual disability, nystagmus, and obesity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1672866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Claes-Jensen type</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/38823052">Nonselective lumbosacral ventral-dorsal rhizotomy for the management of lower-limb hypertonia in nonambulatory children with cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelmageed S,
|
||
Dalmage M,
|
||
Mossner JM,
|
||
Trierweiler R,
|
||
Krater T,
|
||
Raskin JS</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2024 Jun;56(6):E9.
|
||
doi: 10.3171/2024.3.FOCUS2472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38823052" target="_blank">38823052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20633179">Botulinum toxin assessment, intervention and aftercare for lower limb disorders of movement and muscle tone in adults: international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olver J,
|
||
Esquenazi A,
|
||
Fung VS,
|
||
Singer BJ,
|
||
Ward AB;
|
||
Cerebral Palsy Institute</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2010 Aug;17 Suppl 2:57-73.
|
||
doi: 10.1111/j.1468-1331.2010.03128.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20633179" target="_blank">20633179</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lower%20limb%20hypertonia%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 (2)</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/38958103">Immediate effects of TECAR therapy on lower limb to decrease hypertonia in chronic stroke survivors: a randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Rueda L,
|
||
Cabanas-Valdés R,
|
||
Salgueiro C,
|
||
Pérez-Bellmunt A,
|
||
Rodríguez-Sanz J,
|
||
López-de-Celis C</span><br />
|
||
<span class="medgenPMjournal">Disabil Rehabil</span>
|
||
2025 Mar;47(5):1214-1223.
|
||
Epub 2024 Jul 3
|
||
doi: 10.1080/09638288.2024.2365992.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38958103" target="_blank">38958103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39067319">Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garone G,
|
||
Innocenti A,
|
||
Grasso M,
|
||
Mandarino A,
|
||
Capuano A,
|
||
Della Bella G,
|
||
Frascarelli F,
|
||
Diodato D,
|
||
Onesimo R,
|
||
Zampino G,
|
||
Novelli A,
|
||
Digilio MC,
|
||
Bartuli A,
|
||
Dentici ML,
|
||
Parisi P,
|
||
Galosi S,
|
||
Tonduti D,
|
||
Bertini E,
|
||
Sinibaldi L,
|
||
Specchio N</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2024 Sep;126:107057.
|
||
Epub 2024 Jul 9
|
||
doi: 10.1016/j.parkreldis.2024.107057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39067319" target="_blank">39067319</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38823052">Nonselective lumbosacral ventral-dorsal rhizotomy for the management of lower-limb hypertonia in nonambulatory children with cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelmageed S,
|
||
Dalmage M,
|
||
Mossner JM,
|
||
Trierweiler R,
|
||
Krater T,
|
||
Raskin JS</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2024 Jun;56(6):E9.
|
||
doi: 10.3171/2024.3.FOCUS2472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38823052" target="_blank">38823052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37345412">Pendulum test parameters are useful for detecting knee muscle hypertonia and quantifying response to an intrathecal baclofen bolus injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow JW,
|
||
Stokic DS</span><br />
|
||
<span class="medgenPMjournal">Int J Rehabil Res</span>
|
||
2023 Sep 1;46(3):238-247.
|
||
Epub 2023 Jun 22
|
||
doi: 10.1097/MRR.0000000000000590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37345412" target="_blank">37345412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34626599">The effectiveness of botulinum toxin on spasticity and gait of hemiplegic patients after stroke: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varvarousis DN,
|
||
Martzivanou C,
|
||
Dimopoulos D,
|
||
Dimakopoulos G,
|
||
Vasileiadis GI,
|
||
Ploumis A</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2021 Nov;203:74-84.
|
||
Epub 2021 Oct 7
|
||
doi: 10.1016/j.toxicon.2021.09.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34626599" target="_blank">34626599</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lower%20limb%20hypertonia%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38297306">Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Yang Q,
|
||
Luo J,
|
||
Zhou X,
|
||
Yi S,
|
||
Tan S,
|
||
Qin Z</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2024 Jan 31;17(1):44.
|
||
doi: 10.1186/s12920-024-01805-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38297306" target="_blank">38297306</a><a href="/pmc/articles/PMC10829245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37345412">Pendulum test parameters are useful for detecting knee muscle hypertonia and quantifying response to an intrathecal baclofen bolus injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow JW,
|
||
Stokic DS</span><br />
|
||
<span class="medgenPMjournal">Int J Rehabil Res</span>
|
||
2023 Sep 1;46(3):238-247.
|
||
Epub 2023 Jun 22
|
||
doi: 10.1097/MRR.0000000000000590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37345412" target="_blank">37345412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24018366">Impact of specific symptoms of spasticity on voluntary lower limb muscle function, gait and daily activities during subacute and chronic spinal cord injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Esteban E,
|
||
Taylor J,
|
||
Abián-Vicén J,
|
||
Albu S,
|
||
Simón-Martínez C,
|
||
Torricelli D,
|
||
Gómez-Soriano J</span><br />
|
||
<span class="medgenPMjournal">NeuroRehabilitation</span>
|
||
2013;33(4):531-43.
|
||
doi: 10.3233/NRE-131000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24018366" target="_blank">24018366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20633179">Botulinum toxin assessment, intervention and aftercare for lower limb disorders of movement and muscle tone in adults: international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olver J,
|
||
Esquenazi A,
|
||
Fung VS,
|
||
Singer BJ,
|
||
Ward AB;
|
||
Cerebral Palsy Institute</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2010 Aug;17 Suppl 2:57-73.
|
||
doi: 10.1111/j.1468-1331.2010.03128.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20633179" target="_blank">20633179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15327225">Idiopathic anterior spinal cord hernia: under-recognized cause of thoracic myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">White BD,
|
||
Tsegaye M</span><br />
|
||
<span class="medgenPMjournal">Br J Neurosurg</span>
|
||
2004 Jun;18(3):246-9.
|
||
doi: 10.1080/02688690410001732670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15327225" target="_blank">15327225</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lower%20limb%20hypertonia%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 (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38958103">Immediate effects of TECAR therapy on lower limb to decrease hypertonia in chronic stroke survivors: a randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Rueda L,
|
||
Cabanas-Valdés R,
|
||
Salgueiro C,
|
||
Pérez-Bellmunt A,
|
||
Rodríguez-Sanz J,
|
||
López-de-Celis C</span><br />
|
||
<span class="medgenPMjournal">Disabil Rehabil</span>
|
||
2025 Mar;47(5):1214-1223.
|
||
Epub 2024 Jul 3
|
||
doi: 10.1080/09638288.2024.2365992.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38958103" target="_blank">38958103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37345412">Pendulum test parameters are useful for detecting knee muscle hypertonia and quantifying response to an intrathecal baclofen bolus injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow JW,
|
||
Stokic DS</span><br />
|
||
<span class="medgenPMjournal">Int J Rehabil Res</span>
|
||
2023 Sep 1;46(3):238-247.
|
||
Epub 2023 Jun 22
|
||
doi: 10.1097/MRR.0000000000000590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37345412" target="_blank">37345412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34626599">The effectiveness of botulinum toxin on spasticity and gait of hemiplegic patients after stroke: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varvarousis DN,
|
||
Martzivanou C,
|
||
Dimopoulos D,
|
||
Dimakopoulos G,
|
||
Vasileiadis GI,
|
||
Ploumis A</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2021 Nov;203:74-84.
|
||
Epub 2021 Oct 7
|
||
doi: 10.1016/j.toxicon.2021.09.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34626599" target="_blank">34626599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22308557">A prospective, multicentre, randomized, double-blind, placebo-controlled trial of onabotulinumtoxinA to treat plantarflexor/invertor overactivity after stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunne JW,
|
||
Gracies JM,
|
||
Hayes M,
|
||
Zeman B,
|
||
Singer BJ;
|
||
Multicentre Study Group</span><br />
|
||
<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2012 Sep;26(9):787-97.
|
||
Epub 2012 Feb 3
|
||
doi: 10.1177/0269215511432016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22308557" target="_blank">22308557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20633179">Botulinum toxin assessment, intervention and aftercare for lower limb disorders of movement and muscle tone in adults: international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olver J,
|
||
Esquenazi A,
|
||
Fung VS,
|
||
Singer BJ,
|
||
Ward AB;
|
||
Cerebral Palsy Institute</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2010 Aug;17 Suppl 2:57-73.
|
||
doi: 10.1111/j.1468-1331.2010.03128.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20633179" target="_blank">20633179</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lower%20limb%20hypertonia%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38604781">Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pauly M,
|
||
Krumbiegel M,
|
||
Trumpp S,
|
||
Braig S,
|
||
Rupprecht T,
|
||
Kraus C,
|
||
Uebe S,
|
||
Reis A,
|
||
Vasileiou G</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2024 Aug;106(2):180-186.
|
||
Epub 2024 Apr 11
|
||
doi: 10.1111/cge.14532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38604781" target="_blank">38604781</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38297306">Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Yang Q,
|
||
Luo J,
|
||
Zhou X,
|
||
Yi S,
|
||
Tan S,
|
||
Qin Z</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2024 Jan 31;17(1):44.
|
||
doi: 10.1186/s12920-024-01805-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38297306" target="_blank">38297306</a><a href="/pmc/articles/PMC10829245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lower%20limb%20hypertonia%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38823052">Nonselective lumbosacral ventral-dorsal rhizotomy for the management of lower-limb hypertonia in nonambulatory children with cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelmageed S,
|
||
Dalmage M,
|
||
Mossner JM,
|
||
Trierweiler R,
|
||
Krater T,
|
||
Raskin JS</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2024 Jun;56(6):E9.
|
||
doi: 10.3171/2024.3.FOCUS2472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38823052" target="_blank">38823052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38297306">Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Yang Q,
|
||
Luo J,
|
||
Zhou X,
|
||
Yi S,
|
||
Tan S,
|
||
Qin Z</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2024 Jan 31;17(1):44.
|
||
doi: 10.1186/s12920-024-01805-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38297306" target="_blank">38297306</a><a href="/pmc/articles/PMC10829245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34626599">The effectiveness of botulinum toxin on spasticity and gait of hemiplegic patients after stroke: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varvarousis DN,
|
||
Martzivanou C,
|
||
Dimopoulos D,
|
||
Dimakopoulos G,
|
||
Vasileiadis GI,
|
||
Ploumis A</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2021 Nov;203:74-84.
|
||
Epub 2021 Oct 7
|
||
doi: 10.1016/j.toxicon.2021.09.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34626599" target="_blank">34626599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30447195">Gait Impairments in Patients Without Lower Limb Hypertonia Early Poststroke Are Related to Weakness of Paretic Knee Flexors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow JW,
|
||
Stokic DS</span><br />
|
||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
|
||
2019 Jun;100(6):1091-1101.
|
||
Epub 2018 Nov 14
|
||
doi: 10.1016/j.apmr.2018.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30447195" target="_blank">30447195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24018366">Impact of specific symptoms of spasticity on voluntary lower limb muscle function, gait and daily activities during subacute and chronic spinal cord injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Esteban E,
|
||
Taylor J,
|
||
Abián-Vicén J,
|
||
Albu S,
|
||
Simón-Martínez C,
|
||
Torricelli D,
|
||
Gómez-Soriano J</span><br />
|
||
<span class="medgenPMjournal">NeuroRehabilitation</span>
|
||
2013;33(4):531-43.
|
||
doi: 10.3233/NRE-131000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24018366" target="_blank">24018366</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lower%20limb%20hypertonia%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 (7)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34626599">The effectiveness of botulinum toxin on spasticity and gait of hemiplegic patients after stroke: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Varvarousis DN,
|
||
Martzivanou C,
|
||
Dimopoulos D,
|
||
Dimakopoulos G,
|
||
Vasileiadis GI,
|
||
Ploumis A</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2021 Nov;203:74-84.
|
||
Epub 2021 Oct 7
|
||
doi: 10.1016/j.toxicon.2021.09.020.
|
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<span class="bold">PMID: </span><a href="/pubmed/34626599" target="_blank">34626599</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lower%20limb%20hypertonia%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 (1)</a></div></div>
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