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<meta name="keywords" content="C0239830, amyotrophy involving the musculature of the hand, amyotrophy of hand muscles, atrophy of hand muscles, atrophy of the hand muscles, finding, hand muscle atrophy, hand muscle degeneration, hand muscle wasting, hand muscle wasting, bilateral, pathologic function, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Muscular atrophy involving the muscles of the hand." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=116091
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ConceptID=C0239830
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hand muscle atrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116091</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:">C0239830</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Amyotrophy of hand muscles; Atrophy of hand muscles; Atrophy of the hand muscles; Hand muscle wasting</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:0009130">HP:0009130</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Muscular atrophy involving the muscles of the hand. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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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">Hand muscle atrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><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/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892680" ref="tree=MeSH" title="MedGen record for Skeletal muscle atrophy">Skeletal muscle atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/867165" ref="tree=MeSH" title="MedGen record for Upper limb amyotrophy">Upper limb amyotrophy</a></span><ul><li><span class="TLline"><a href="/medgen/867223" ref="tree=MeSH" title="MedGen record for Distal upper limb amyotrophy">Distal upper limb amyotrophy</a></span><ul><li><span class="matched_ds">Hand muscle atrophy</span><ul><li><span class="TLline"><a href="/medgen/351202" ref="tree=MeSH" title="MedGen record for Intrinsic hand muscle atrophy">Intrinsic hand muscle atrophy</a></span></li><li><span class="TLline"><a href="/medgen/355274" ref="tree=MeSH" title="MedGen record for Thenar muscle atrophy">Thenar muscle atrophy</a></span></li></ul></li></ul></li></ul></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">
|
||
<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>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_163239"><div><strong>Brown-Vialetto-van Laere syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163239</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.">C0796274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163239">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322238"><div><strong>Spondyloepiphyseal dysplasia, Reardon type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322238</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.">C1833603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375127"><div><strong>Charcot-Marie-Tooth disease type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375127</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.">C1843225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375157"><div><strong>Neuronopathy, distal hereditary motor, type 7B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375157</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.">C1843315</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375157">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342947"><div><strong>Charcot-Marie-Tooth disease axonal type 2C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342947</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.">C1853710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342947">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349246">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_355801"><div><strong>Spinal Muscular Atrophy, Segmental</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355801</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.">C1866774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355801">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_419336"><div><strong>Congenital myasthenic syndrome 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419336</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.">C2931107</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003). Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic Syndromes Recessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (608930) are caused by mutation in the CHRNA1 gene (100690); CMS2A (616313) and CMS2C (616314) are caused by mutation in the CHRNB1 gene (100710) on 17p12; CMS3A (616321), CMS3B (616322), and CMS3C (616323) are caused by mutation in the CHRND gene (100720) on 2q33; and CMS4A (605809), CMS4B (616324), and CMS4C (608931) are caused by mutation in the CHRNE gene (100725) on 17p13. CMS5 (603034) is caused by mutation in the COLQ gene (603033) on 3p25; CMS6 (254210) is caused by mutation in the CHAT gene (118490) on 10q; CMS7 (616040) is caused by mutation in the SYT2 gene (600104) on 1q32; CMS8 (615120) is caused by mutation in the AGRN gene (103320) on 1p; CMS9 (616325) is caused by mutation in the MUSK gene (601296) on 9q31; CMS10 (254300) is caused by mutation in the DOK7 gene (610285) on 4p; CMS11 (616326) is caused by mutation in the RAPSN gene (601592) on 11p11; CMS12 (610542) is caused by mutation in the GFPT1 gene (138292) on 2p14; CMS13 (614750) is caused by mutation in the DPAGT1 gene (191350) on 11q23; CMS14 (616228) is caused by mutation in the ALG2 gene (607905) on 9q22; CMS15 (616227) is caused by mutation in the ALG14 gene (612866) on 1p21; CMS16 (614198) is caused by mutation in the SCN4A gene (603967) on 17q; CMS17 (616304) is caused by mutation in the LRP4 gene (604270) on 11p12; CMS18 (616330) is caused by mutation in the SNAP25 gene (600322) on 20p11; CMS19 (616720) is caused by mutation in the COL13A1 gene (120350) on 10q22; CMS20 (617143) is caused by mutation in the SLC5A7 gene (608761) on 2q12; CMS21 (617239) is caused by mutation in the SLC18A3 gene (600336) on 10q11; CMS22 (616224) is caused by mutation in the PREPL gene (609557) on 2p21; CMS23 (618197) is caused by mutation in the SLC25A1 gene (190315) on 22q11; CMS24 (618198) is caused by mutation in the MYO9A gene (604875) on 15q22; and CMS25 (618323) is caused by mutation in the VAMP1 gene (185880) on 12p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419336">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811490"><div><strong>Hereditary spastic paraplegia 57</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811490</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.">C3714897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811490">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906504"><div><strong>Charcot-Marie-Tooth disease axonal type 2U</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906504</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.">C4084821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905125"><div><strong>Progressive scapulohumeroperoneal distal myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905125</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.">C4225181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1713890"><div><strong>Mitochondrial DNA depletion syndrome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713890</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.">C5394140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial DNA depletion syndrome-18 (MTDPS18) is an autosomal recessive neuromuscular disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, resulting in loss of ambulation as well as atrophy of the intrinsic hand muscles with clawed hands. Affected individuals may also develop scoliosis and have hypo- or hyperreflexia and decreased pulmonary vital capacity. Examination of skeletal muscle shows neurogenic atrophy and combined mitochondrial oxidative phosphorylation deficiency associated with mtDNA depletion. The clinical phenotype is reminiscent of spinal muscular atrophy (see SMA, 253300) and the metabolic profile is reminiscent of 2-aminoadipic 2-oxoadipic aciduria (AMOXAD; 204750), which is caused by mutation in the DHTKD1 gene (614984) (summary by Boczonadi et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1713890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1847896"><div><strong>Arthrogryposis, distal, type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847896</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.">C5882704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Distal arthrogryposis type 12 (DA12) is characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include contractures of the knees and Achilles tendons, spinal stiffness, scoliosis, and orthodontic abnormalities. Radiographic investigations excluded bony abnormalities of the affected joints (Boschann et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847896">Condition Record</a></div></div>
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<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>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, type 12</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brown-Vialetto-van Laere syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2C</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2U</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 2E</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 1A</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811490" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 57</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1713890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 18</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 7B</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive scapulohumeroperoneal distal myopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal Muscular Atrophy, Segmental</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, Reardon type</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/29666207">Split hand muscle echo intensity index as a reliable imaging marker for differential diagnosis of amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seok HY,
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||
Park J,
|
||
Kim YH,
|
||
Oh KW,
|
||
Kim SH,
|
||
Kim BJ</span><br />
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||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2018 Sep;89(9):943-948.
|
||
Epub 2018 Apr 17
|
||
doi: 10.1136/jnnp-2017-317917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29666207" target="_blank">29666207</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hand%20muscle%20atrophy%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 (1)</a></div></div>
|
||
</div>
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<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
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to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
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|
||
<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/36574580">Elective brachial plexus decompression in neurogenic thoracic outlet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diner C,
|
||
Mathieu L,
|
||
Vandendries C,
|
||
Oberlin C,
|
||
Belkheyar Z</span><br />
|
||
<span class="medgenPMjournal">Hand Surg Rehabil</span>
|
||
2023 Feb;42(1):9-14.
|
||
Epub 2022 Nov 26
|
||
doi: 10.1016/j.hansur.2022.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36574580" target="_blank">36574580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27575868">Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh RJ,
|
||
Preethish-Kumar V,
|
||
Polavarapu K,
|
||
Vengalil S,
|
||
Prasad C,
|
||
Nalini A</span><br />
|
||
<span class="medgenPMjournal">Amyotroph Lateral Scler Frontotemporal Degener</span>
|
||
2017 Feb;18(1-2):10-16.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1080/21678421.2016.1223140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27575868" target="_blank">27575868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26996473">Pattern Differences of Small Hand Muscle Atrophy in Amyotrophic Lateral Sclerosis and Mimic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang J,
|
||
Liu MS,
|
||
Guan YZ,
|
||
Du H,
|
||
Li BH,
|
||
Cui B,
|
||
Ding QY,
|
||
Cui LY</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2016 Apr 5;129(7):792-8.
|
||
doi: 10.4103/0366-6999.178953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26996473" target="_blank">26996473</a><a href="/pmc/articles/PMC4819298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24958627">Pattern difference of dissociated hand muscle atrophy in amyotrophic lateral sclerosis and variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JE,
|
||
Hong YH,
|
||
Lee JH,
|
||
Ahn SW,
|
||
Kim SM,
|
||
Park KS,
|
||
Sung JJ,
|
||
Lee KW,
|
||
Seong SY</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 Mar;51(3):333-7.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1002/mus.24323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24958627" target="_blank">24958627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18236469">Dissociated small hand muscle atrophy in amyotrophic lateral sclerosis: frequency, extent, and specificity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuwabara S,
|
||
Sonoo M,
|
||
Komori T,
|
||
Shimizu T,
|
||
Hirashima F,
|
||
Inaba A,
|
||
Misawa S,
|
||
Hatanaka Y;
|
||
Tokyo Metropolitan Neuromuscular Electrodiagnosis Study Group</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2008 Apr;37(4):426-30.
|
||
doi: 10.1002/mus.20949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18236469" target="_blank">18236469</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hand%20muscle%20atrophy%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36574580">Elective brachial plexus decompression in neurogenic thoracic outlet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diner C,
|
||
Mathieu L,
|
||
Vandendries C,
|
||
Oberlin C,
|
||
Belkheyar Z</span><br />
|
||
<span class="medgenPMjournal">Hand Surg Rehabil</span>
|
||
2023 Feb;42(1):9-14.
|
||
Epub 2022 Nov 26
|
||
doi: 10.1016/j.hansur.2022.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36574580" target="_blank">36574580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27575868">Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh RJ,
|
||
Preethish-Kumar V,
|
||
Polavarapu K,
|
||
Vengalil S,
|
||
Prasad C,
|
||
Nalini A</span><br />
|
||
<span class="medgenPMjournal">Amyotroph Lateral Scler Frontotemporal Degener</span>
|
||
2017 Feb;18(1-2):10-16.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1080/21678421.2016.1223140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27575868" target="_blank">27575868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26996473">Pattern Differences of Small Hand Muscle Atrophy in Amyotrophic Lateral Sclerosis and Mimic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang J,
|
||
Liu MS,
|
||
Guan YZ,
|
||
Du H,
|
||
Li BH,
|
||
Cui B,
|
||
Ding QY,
|
||
Cui LY</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2016 Apr 5;129(7):792-8.
|
||
doi: 10.4103/0366-6999.178953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26996473" target="_blank">26996473</a><a href="/pmc/articles/PMC4819298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24637778">Utility of dissociated intrinsic hand muscle atrophy in the diagnosis of amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menon P,
|
||
Vucic S</span><br />
|
||
<span class="medgenPMjournal">J Vis Exp</span>
|
||
2014 Mar 4;(85)
|
||
doi: 10.3791/51056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24637778" target="_blank">24637778</a><a href="/pmc/articles/PMC4123526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18195674">Tussive headache with weakness and atrophy of the right hand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Halawa A,
|
||
Krishnaswamy G</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol Dis</span>
|
||
2007 Fall;4(4):224-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18195674" target="_blank">18195674</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hand%20muscle%20atrophy%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 (16)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32999299">A partial least squares analysis of functional status, disability, and quality of life after surgical decompression for degenerative cervical myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badhiwala JH,
|
||
Khan O,
|
||
Wegner A,
|
||
Jiang F,
|
||
Wilson JRF,
|
||
Morgan BR,
|
||
Ibrahim GM,
|
||
Wilson JR,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 Sep 30;10(1):16132.
|
||
doi: 10.1038/s41598-020-72595-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32999299" target="_blank">32999299</a><a href="/pmc/articles/PMC7527550" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hand%20muscle%20atrophy%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32999299">A partial least squares analysis of functional status, disability, and quality of life after surgical decompression for degenerative cervical myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badhiwala JH,
|
||
Khan O,
|
||
Wegner A,
|
||
Jiang F,
|
||
Wilson JRF,
|
||
Morgan BR,
|
||
Ibrahim GM,
|
||
Wilson JR,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 Sep 30;10(1):16132.
|
||
doi: 10.1038/s41598-020-72595-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32999299" target="_blank">32999299</a><a href="/pmc/articles/PMC7527550" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29666207">Split hand muscle echo intensity index as a reliable imaging marker for differential diagnosis of amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seok HY,
|
||
Park J,
|
||
Kim YH,
|
||
Oh KW,
|
||
Kim SH,
|
||
Kim BJ</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2018 Sep;89(9):943-948.
|
||
Epub 2018 Apr 17
|
||
doi: 10.1136/jnnp-2017-317917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29666207" target="_blank">29666207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24958627">Pattern difference of dissociated hand muscle atrophy in amyotrophic lateral sclerosis and variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JE,
|
||
Hong YH,
|
||
Lee JH,
|
||
Ahn SW,
|
||
Kim SM,
|
||
Park KS,
|
||
Sung JJ,
|
||
Lee KW,
|
||
Seong SY</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 Mar;51(3):333-7.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1002/mus.24323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24958627" target="_blank">24958627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17894620">Clinical and MRI predictors of outcome after surgical intervention for cervical spondylotic myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alafifi T,
|
||
Kern R,
|
||
Fehlings M</span><br />
|
||
<span class="medgenPMjournal">J Neuroimaging</span>
|
||
2007 Oct;17(4):315-22.
|
||
doi: 10.1111/j.1552-6569.2007.00119.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17894620" target="_blank">17894620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14964585">Advanced Hirayama disease with successful improvement of activities of daily living by operative reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiba S,
|
||
Yonekura K,
|
||
Nonaka M,
|
||
Imai T,
|
||
Matumoto H,
|
||
Wada T</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2004 Jan;43(1):79-81.
|
||
doi: 10.2169/internalmedicine.43.79.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14964585" target="_blank">14964585</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hand%20muscle%20atrophy%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36574580">Elective brachial plexus decompression in neurogenic thoracic outlet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diner C,
|
||
Mathieu L,
|
||
Vandendries C,
|
||
Oberlin C,
|
||
Belkheyar Z</span><br />
|
||
<span class="medgenPMjournal">Hand Surg Rehabil</span>
|
||
2023 Feb;42(1):9-14.
|
||
Epub 2022 Nov 26
|
||
doi: 10.1016/j.hansur.2022.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36574580" target="_blank">36574580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29666207">Split hand muscle echo intensity index as a reliable imaging marker for differential diagnosis of amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seok HY,
|
||
Park J,
|
||
Kim YH,
|
||
Oh KW,
|
||
Kim SH,
|
||
Kim BJ</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2018 Sep;89(9):943-948.
|
||
Epub 2018 Apr 17
|
||
doi: 10.1136/jnnp-2017-317917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29666207" target="_blank">29666207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26996473">Pattern Differences of Small Hand Muscle Atrophy in Amyotrophic Lateral Sclerosis and Mimic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang J,
|
||
Liu MS,
|
||
Guan YZ,
|
||
Du H,
|
||
Li BH,
|
||
Cui B,
|
||
Ding QY,
|
||
Cui LY</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2016 Apr 5;129(7):792-8.
|
||
doi: 10.4103/0366-6999.178953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26996473" target="_blank">26996473</a><a href="/pmc/articles/PMC4819298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24958627">Pattern difference of dissociated hand muscle atrophy in amyotrophic lateral sclerosis and variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JE,
|
||
Hong YH,
|
||
Lee JH,
|
||
Ahn SW,
|
||
Kim SM,
|
||
Park KS,
|
||
Sung JJ,
|
||
Lee KW,
|
||
Seong SY</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 Mar;51(3):333-7.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1002/mus.24323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24958627" target="_blank">24958627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6639409">Hand muscle atrophy in multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fisher M,
|
||
Long RR,
|
||
Drachman DA</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1983 Dec;40(13):811-5.
|
||
doi: 10.1001/archneur.1983.04050120061009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6639409" target="_blank">6639409</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hand%20muscle%20atrophy%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hand%20muscle%20atrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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