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<meta name="keywords" content="C1866012, finding, proximal muscle weakness in upper limbs, proximal muscle weakness, upper limbs, 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="A lack of strength of the proximal muscles of the arms." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Proximal muscle weakness in upper limbs (Concept Id: C1866012)
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<!--
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UID=356424
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ConceptID=C1866012
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Proximal muscle weakness in upper limbs</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356424</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:">C1866012</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Proximal muscle weakness, upper limbs</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0008997">HP:0008997</a></td></tr>
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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>
|
||
<div class="portlet_content ln">A lack of strength of the proximal muscles of the arms. [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">Proximal muscle weakness in upper limbs</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/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/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/57735" ref="tree=MeSH" title="MedGen record for Muscle weakness">Muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/113169" ref="tree=MeSH" title="MedGen record for Proximal muscle weakness">Proximal muscle weakness</a></span><ul><li><span class="matched_ds">Proximal muscle weakness in upper limbs</span><ul><li><span class="TLline"><a href="/medgen/810994" ref="tree=MeSH" title="MedGen record for Triceps weakness">Triceps weakness</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_98048"><div><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98048</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.">C0410190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98048">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375113"><div><strong>Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375113</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.">C1843183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis is a severe progressive motor and sensory neuropathy with neonatal or infantile onset of weakness and wasting of the feet with subsequent involvement of the hands. Some patients develop a hoarse voice and vocal cord paresis by the second decade. Nerve conduction velocities and pathologic pattern are consistent with an axonal neuropathy (Sevilla et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375113">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_400895"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400895</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.">C1866008</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-7 (LGMDR7), also known as LGMDR7, is a skeletal muscle disorder with age of onset in the first or second decade of life. Weakness of proximal and some distal muscles progresses to inability to walk by the third or fourth decade, although some individuals retain the ability to walk without support later. Heart involvement may be present. Creatine kinase levels are increased as much as 30-fold (summary by Moreira et al., 2000). For a general description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400895">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895641"><div><strong>Congenital myasthenic syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895641</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.">C4225368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients may show a favorable response to amifampridine (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895641">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645741"><div><strong>Autosomal dominant centronuclear myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645741</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.">C4551952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005). Genetic Heterogeneity of Centronuclear Myopathy Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q35; and CNM6 (617760), caused by mutation in the ZAK gene (609479) on chromosome 2q31. The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see 159991.0001. Some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1645741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648462"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648462</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.">C4748327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2-MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. Failure to thrive, gastroesophageal reflux, aspiration, and recurrent chest infections necessitating frequent hospitalizations are common. As disease progresses, facial muscle weakness, temporomandibular joint contractures, and macroglossia may further impair feeding and can affect speech. In late-onset LAMA2-MD onset of manifestations range from early childhood to adulthood. Affected individuals may show muscle hypertrophy and develop a rigid spine syndrome with joint contractures, usually most prominent in the elbows. Progressive respiratory insufficiency, scoliosis, and cardiomyopathy can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648462">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1759760"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1759760</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.">C5436279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; 605078) or p62 (SQSTM1; 601530) aggregates. Patients with a D395G mutation (601023.0014) have been shown to develop pathologic tau (MAPT; 157140) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by Johnson et al., 2010; Wong et al., 2018; Al-Obeidi et al., 2018; Darwich et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1759760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786836"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786836</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.">C5543119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is characterized by onset of lower leg weakness in the first decade. Affected individuals have difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows phenotypic overlap with distal hereditary motor neuropathy, but can distinguished by the presence of myopathic features (summary by Deschauer et al., 2021 and Pagnamenta et al., 2021). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786836">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794212"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794212</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.">C5562002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-27 (LGMDR27) is characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. The age at onset is highly variable, from infancy to young adulthood. Patients with infantile onset may have a more severe disease course with rapid progression. Upper limb involvement and distal muscle weakness may also occur. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Less common features include impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows nonspecific dystrophic changes (Coppens et al., 2021). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800447"><div><strong>Charcot-Marie-Tooth disease axonal type 2X</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800447</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.">C5569024</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 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016) 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/1800447">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800449"><div><strong>Charcot-Marie-Tooth disease type 2Y</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800449</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.">C5569026</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 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014). 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/1800449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808663"><div><strong>Myopathy, distal, 7, adult-onset, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808663</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.">C5676880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins (summary by Johari et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808663">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1812978"><div><strong>Inclusion body myopathy and brain white matter abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1812978</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.">C5676909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclusion body myopathy and brain white matter abnormalities (IBMWMA) is an autosomal dominant adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. EMG is consistent with a myopathic process, although neuropathic findings have also been shown. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Serum creatine kinase is usually elevated. Cognitive impairment or frontotemporal dementia occurs in some patients. The disorder is slowly progressive; some patients become wheelchair-bound after many years. Rare patients with this mutation develop ALS; some have both myopathy and ALS. Brain imaging shows white matter abnormalities using diffusion tensor imaging. The disorder is classified as multisystem proteinopathy-6 (MSP6) due to the characteristic disease mechanism of protein misfolding and abnormal tissue deposition (summary by Leoni et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1812978">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1824000"><div><strong>Charcot-Marie-Tooth disease, axonal, IIa 2II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824000</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.">C5774227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Axonal Charcot-Marie-Tooth disease type 2II (CMT2II) is an autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Some patients may have upper limb involvement with atrophy of the intrinsic hand muscles. The age at onset is highly variable, ranging from infancy to adulthood. Electrophysiologic studies are usually consistent with an axonal process, although some may show intermediate or even demyelinating values (Park et al., 2020; Ando et al., 2022). One family with possible autosomal recessive inheritance has been reported (Bogdanova-Mihaylova et al., 2021). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824000">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1841154"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841154</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.">C5830518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-28 (LGMDR28) is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. The age at onset is highly variable, usually in the first decade, although onset in the fourth decade has also been reported. The disorder can be rapidly progressive or show a slower course. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase and elevated fasting blood glucose levels, although cholesterol is normal. EMG shows a myopathic pattern; muscle biopsy is generally unremarkable, but can show nonspecific myopathic or dystrophic features (Yogev et al., 2023; Morales-Rosado et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1841154">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1850177"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1850177</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.">C5882672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) is a slowly progressive peripheral neuropathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties. Most affected individuals also have upper limb involvement with weakness and atrophy of the hand muscles. Foot deformities are often present. Some patients may have mild sensory abnormalities or pyramidal signs. Electrophysiologic studies are consistent with a length-dependent axonal motor neuropathy (summary by Jacquier et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1850177">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1861320"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861320</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.">C5935611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-29 (LGMDR29) is a neuromuscular disorder characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. The disorder, which causes walking difficulties, is progressive and may result in loss of ambulation. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. Muscle biopsy shows dystrophic and myofibrillar changes, and serum creatine kinase is increased. Rare individuals have been reported to have central nervous system involvement, including cataracts, developmental delay, and brain imaging abnormalities (Nashabat et al., 2024 and Iruzubieta et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive limb- girdle muscular dystrophy, see LGMDR1 (253600).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1861320">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant centronuclear myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2G</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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800447" 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 2X</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800449" 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 2Y</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', 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_1824000" 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, IIa 2II</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375113" 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, with vocal cord paresis, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1759760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1812978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy and brain white matter abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 23</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 27</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 28</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 29</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, distal, 7, adult-onset, X-linked</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1850177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 9</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>
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<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/35189735">Nonoperative Management of Humerus Fractures in Patients With Ispilateral Hemiparesis or Hemiplegia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patel RS,
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Bartoletta JJ,
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||
Munaretto NF,
|
||
Tagliero AJ,
|
||
Rhee PC</span><br />
|
||
<span class="medgenPMjournal">Hand (N Y)</span>
|
||
2023 Sep;18(6):1027-1036.
|
||
Epub 2022 Feb 21
|
||
doi: 10.1177/15589447211073835.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35189735" target="_blank">35189735</a><a href="/pmc/articles/PMC10470230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24084432">Intrinsic contracture of the hand: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tosti R,
|
||
Thoder JJ,
|
||
Ilyas AM</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2013 Oct;21(10):581-91.
|
||
doi: 10.5435/JAAOS-21-10-581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24084432" target="_blank">24084432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23596213">Proximal myopathy: diagnostic approach and initial management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suresh E,
|
||
Wimalaratna S</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
2013 Aug;89(1054):470-7.
|
||
Epub 2013 Apr 17
|
||
doi: 10.1136/postgradmedj-2013-131752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23596213" target="_blank">23596213</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(proximal%20muscle%20weakness%20in%20upper%20limbs)%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 (8)</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/35203250">Muscle Sonography in Inclusion Body Myositis: A Systematic Review and Meta-Analysis of 944 Measurements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelnaby R,
|
||
Mohamed KA,
|
||
Elgenidy A,
|
||
Sonbol YT,
|
||
Bedewy MM,
|
||
Aboutaleb AM,
|
||
Ebrahim MA,
|
||
Maallem I,
|
||
Dardeer KT,
|
||
Heikal HA,
|
||
Gawish HM,
|
||
Zschüntzsch J</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Feb 9;11(4)
|
||
doi: 10.3390/cells11040600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35203250" target="_blank">35203250</a><a href="/pmc/articles/PMC8869828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33443198">Surgical anesthesia for proximal arm surgery in the awake patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girón-Arango L,
|
||
Perlas A</span><br />
|
||
<span class="medgenPMjournal">Reg Anesth Pain Med</span>
|
||
2021 May;46(5):446-451.
|
||
Epub 2020 Dec 21
|
||
doi: 10.1136/rapm-2020-101929.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33443198" target="_blank">33443198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33197058">Early and consistent pattern of proximal weakness in GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khadilkar SV,
|
||
Chaudhari AD,
|
||
Singla MB,
|
||
Dastur RS,
|
||
Gaitonde PS,
|
||
Bhutada AG,
|
||
Hegde MR</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Feb;63(2):199-203.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1002/mus.27117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197058" target="_blank">33197058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25415516">Cervicobrachial polymyositis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khadilkar SV,
|
||
Gupta N,
|
||
Yadav RS</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2014 Dec;16(2):59-68.
|
||
doi: 10.1097/CND.0000000000000059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25415516" target="_blank">25415516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20694735">Cervical spondylotic amyotrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang SD,
|
||
Jiang LS,
|
||
Dai LY</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2011 Mar;20(3):351-7.
|
||
Epub 2010 Aug 8
|
||
doi: 10.1007/s00586-010-1544-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20694735" target="_blank">20694735</a><a href="/pmc/articles/PMC3048221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Proximal%20muscle%20weakness%20in%20upper%20limbs%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 (142)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703468">Diabetic Lumbosacral Radiculoplexus Neuropathy (Diabetic Amyotrophy).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glenn MD,
|
||
Jabari D</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):553-564.
|
||
doi: 10.1016/j.ncl.2020.03.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703468" target="_blank">32703468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30287482">Proximal muscle weakness and skin rash.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nandhagopal R,
|
||
Al-Jahdhami S,
|
||
Gujjar AR</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2018 Oct 4;363:k3614.
|
||
doi: 10.1136/bmj.k3614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30287482" target="_blank">30287482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25415516">Cervicobrachial polymyositis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khadilkar SV,
|
||
Gupta N,
|
||
Yadav RS</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2014 Dec;16(2):59-68.
|
||
doi: 10.1097/CND.0000000000000059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25415516" target="_blank">25415516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23596213">Proximal myopathy: diagnostic approach and initial management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suresh E,
|
||
Wimalaratna S</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
2013 Aug;89(1054):470-7.
|
||
Epub 2013 Apr 17
|
||
doi: 10.1136/postgradmedj-2013-131752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23596213" target="_blank">23596213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19192301">Amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wijesekera LC,
|
||
Leigh PN</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Feb 3;4:3.
|
||
doi: 10.1186/1750-1172-4-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19192301" target="_blank">19192301</a><a href="/pmc/articles/PMC2656493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Proximal%20muscle%20weakness%20in%20upper%20limbs%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 (194)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37921132">Acroparesthesias: An Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slouma M,
|
||
Ben Dhia S,
|
||
Cheour E,
|
||
Gharsallah I</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rev</span>
|
||
2024;20(2):115-126.
|
||
doi: 10.2174/0115733971254976230927113202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37921132" target="_blank">37921132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30287482">Proximal muscle weakness and skin rash.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nandhagopal R,
|
||
Al-Jahdhami S,
|
||
Gujjar AR</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2018 Oct 4;363:k3614.
|
||
doi: 10.1136/bmj.k3614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30287482" target="_blank">30287482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23596213">Proximal myopathy: diagnostic approach and initial management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suresh E,
|
||
Wimalaratna S</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
2013 Aug;89(1054):470-7.
|
||
Epub 2013 Apr 17
|
||
doi: 10.1136/postgradmedj-2013-131752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23596213" target="_blank">23596213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22491704">A 90 year old man with difficulty swallowing and proximal muscle weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rehman HU</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2012 Apr 4;344:e461.
|
||
doi: 10.1136/bmj.e461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22491704" target="_blank">22491704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12521285">Proximal muscle weakness--an unusual presentation of celiac disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain V,
|
||
Angitii RR,
|
||
Singh S,
|
||
Thapa BR,
|
||
Kumar L</span><br />
|
||
<span class="medgenPMjournal">J Trop Pediatr</span>
|
||
2002 Dec;48(6):380-1.
|
||
doi: 10.1093/tropej/48.6.380.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12521285" target="_blank">12521285</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Proximal%20muscle%20weakness%20in%20upper%20limbs%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 (78)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33197058">Early and consistent pattern of proximal weakness in GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khadilkar SV,
|
||
Chaudhari AD,
|
||
Singla MB,
|
||
Dastur RS,
|
||
Gaitonde PS,
|
||
Bhutada AG,
|
||
Hegde MR</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Feb;63(2):199-203.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1002/mus.27117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197058" target="_blank">33197058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703468">Diabetic Lumbosacral Radiculoplexus Neuropathy (Diabetic Amyotrophy).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glenn MD,
|
||
Jabari D</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):553-564.
|
||
doi: 10.1016/j.ncl.2020.03.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703468" target="_blank">32703468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22491704">A 90 year old man with difficulty swallowing and proximal muscle weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rehman HU</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2012 Apr 4;344:e461.
|
||
doi: 10.1136/bmj.e461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22491704" target="_blank">22491704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20694735">Cervical spondylotic amyotrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang SD,
|
||
Jiang LS,
|
||
Dai LY</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2011 Mar;20(3):351-7.
|
||
Epub 2010 Aug 8
|
||
doi: 10.1007/s00586-010-1544-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20694735" target="_blank">20694735</a><a href="/pmc/articles/PMC3048221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19192301">Amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wijesekera LC,
|
||
Leigh PN</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Feb 3;4:3.
|
||
doi: 10.1186/1750-1172-4-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19192301" target="_blank">19192301</a><a href="/pmc/articles/PMC2656493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Proximal%20muscle%20weakness%20in%20upper%20limbs%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 (77)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36793650">The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diella E,
|
||
LoMauro A,
|
||
Delle Fave M,
|
||
Cima R,
|
||
D'Angelo MG</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2022;41(4):207-211.
|
||
Epub 2022 Dec 31
|
||
doi: 10.36185/2532-1900-084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36793650" target="_blank">36793650</a><a href="/pmc/articles/PMC9896594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34515763">Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alonso-Pérez J,
|
||
González-Quereda L,
|
||
Bruno C,
|
||
Panicucci C,
|
||
Alavi A,
|
||
Nafissi S,
|
||
Nilipour Y,
|
||
Zanoteli E,
|
||
Isihi LMA,
|
||
Melegh B,
|
||
Hadzsiev K,
|
||
Muelas N,
|
||
Vílchez JJ,
|
||
Dourado ME,
|
||
Kadem N,
|
||
Kutluk G,
|
||
Umair M,
|
||
Younus M,
|
||
Pegorano E,
|
||
Bello L,
|
||
Crawford TO,
|
||
Suárez-Calvet X,
|
||
Töpf A,
|
||
Guglieri M,
|
||
Marini-Bettolo C,
|
||
Gallano P,
|
||
Straub V,
|
||
Díaz-Manera J</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 18;145(2):596-606.
|
||
doi: 10.1093/brain/awab301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34515763" target="_blank">34515763</a><a href="/pmc/articles/PMC9014751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33197058">Early and consistent pattern of proximal weakness in GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khadilkar SV,
|
||
Chaudhari AD,
|
||
Singla MB,
|
||
Dastur RS,
|
||
Gaitonde PS,
|
||
Bhutada AG,
|
||
Hegde MR</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Feb;63(2):199-203.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1002/mus.27117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197058" target="_blank">33197058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32144182">Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suárez-Calvet X,
|
||
Alonso-Pérez J,
|
||
Castellví I,
|
||
Carrasco-Rozas A,
|
||
Fernández-Simón E,
|
||
Zamora C,
|
||
Martínez-Martínez L,
|
||
Alonso-Jiménez A,
|
||
Rojas-García R,
|
||
Turón J,
|
||
Querol L,
|
||
de Luna N,
|
||
Milena-Millan A,
|
||
Corominas H,
|
||
Castillo D,
|
||
Cortés-Vicente E,
|
||
Illa I,
|
||
Gallardo E,
|
||
Díaz-Manera J</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2020 May;7(3)
|
||
Epub 2020 Mar 6
|
||
doi: 10.1212/NXI.0000000000000694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32144182" target="_blank">32144182</a><a href="/pmc/articles/PMC7136050" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28314812">Improvement in arm and hand function after a stroke with task-oriented training.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Israely S,
|
||
Leisman G,
|
||
Carmeli E</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2017 Mar 17;2017
|
||
doi: 10.1136/bcr-2017-219250.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314812" target="_blank">28314812</a><a href="/pmc/articles/PMC5372193" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Proximal%20muscle%20weakness%20in%20upper%20limbs%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 (117)</a></div></div>
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||
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||
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||
<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/37548237">The efficacy of hybrid neuroprostheses in the rehabilitation of upper limb impairment after stroke, a narrative and systematic review with a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Höhler C,
|
||
Trigili E,
|
||
Astarita D,
|
||
Hermsdörfer J,
|
||
Jahn K,
|
||
Krewer C</span><br />
|
||
<span class="medgenPMjournal">Artif Organs</span>
|
||
2024 Mar;48(3):232-253.
|
||
Epub 2023 Aug 7
|
||
doi: 10.1111/aor.14618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37548237" target="_blank">37548237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35203250">Muscle Sonography in Inclusion Body Myositis: A Systematic Review and Meta-Analysis of 944 Measurements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelnaby R,
|
||
Mohamed KA,
|
||
Elgenidy A,
|
||
Sonbol YT,
|
||
Bedewy MM,
|
||
Aboutaleb AM,
|
||
Ebrahim MA,
|
||
Maallem I,
|
||
Dardeer KT,
|
||
Heikal HA,
|
||
Gawish HM,
|
||
Zschüntzsch J</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Feb 9;11(4)
|
||
doi: 10.3390/cells11040600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35203250" target="_blank">35203250</a><a href="/pmc/articles/PMC8869828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32392599">Motor Recovery of the Suprascapular Nerve after Arthroscopic Decompression in the Scapular Notch - a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">von Knoch M,
|
||
Frosch S,
|
||
Baums MH,
|
||
Lehmann W</span><br />
|
||
<span class="medgenPMjournal">Z Orthop Unfall</span>
|
||
2021 Oct;159(5):546-553.
|
||
Epub 2020 May 11
|
||
doi: 10.1055/a-1128-0557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32392599" target="_blank">32392599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30924361">Supercharge End-to-Side Nerve Transfer: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunn JC,
|
||
Gonzalez GA,
|
||
Fernandez I,
|
||
Orr JD,
|
||
Polfer EM,
|
||
Nesti LJ</span><br />
|
||
<span class="medgenPMjournal">Hand (N Y)</span>
|
||
2021 Mar;16(2):151-156.
|
||
Epub 2019 Mar 29
|
||
doi: 10.1177/1558944719836213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30924361" target="_blank">30924361</a><a href="/pmc/articles/PMC8041420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16847784">Systematic review of the effect of robot-aided therapy on recovery of the hemiparetic arm after stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prange GB,
|
||
Jannink MJ,
|
||
Groothuis-Oudshoorn CG,
|
||
Hermens HJ,
|
||
Ijzerman MJ</span><br />
|
||
<span class="medgenPMjournal">J Rehabil Res Dev</span>
|
||
2006 Mar-Apr;43(2):171-84.
|
||
doi: 10.1682/jrrd.2005.04.0076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16847784" target="_blank">16847784</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Proximal%20muscle%20weakness%20in%20upper%20limbs%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 (7)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(proximal%20muscle%20weakness%20in%20upper%20limbs)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Proximal%20muscle%20weakness%20in%20upper%20limbs%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d057c6b15b832ebcb2cabf">Proximal muscle weakness in upper limbs</a>
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