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<!--
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UID=68704
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ConceptID=C0240421
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive muscle weakness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68704</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.">C0240421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Muscle weakness, progressive</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:0003323">HP:0003323</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Progressive muscle weakness</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="matched_ds">Progressive muscle weakness</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_7349"><div><strong>Multiple symmetric lipomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7349</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.">C0023804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple symmetric lipomatosis (MSL) is an autosomal recessive metabolic disorder characterized by the growth of unencapsulated masses of adipose tissue with predilection for the cervical and thoracic regions. The lipoma growth is striking and disfiguring, and growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Most, but not all, patients develop axonal peripheral neuropathy, which can appear at any age and varies in severity. Laboratory studies in MSL show low leptin (164160), low adiponectin (605441), variably increased lactate, and increased FGF21 (609436). Some patients may have insulin resistance. The disorder is exclusively associated with a particular MFN2 mutation (R707W; 608507.0013), usually in the homozygous state, but sometimes in the compound heterozygous state (Rocha et al., 2017; Capel et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7349">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_6222"><div><strong>Marinesco-Sjögren syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6222</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:">C0024814</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6222">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163205"><div><strong>Arts syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163205</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.">C0796028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). In affected males, the PRS deficiency phenotypic spectrum ranges from severe congenital profound sensorineural hearing loss, intellectual disability, delayed motor development, and progressive ophthalmologic involvement (retinal dystrophy and optic atrophy) to normal cognitive abilities and relatively later-onset, somewhat milder manifestations, such as mild sensorineural hearing loss, peripheral neuropathy, and gait ataxia. Heterozygous females can show isolated and/or milder manifestations in the PRS deficiency spectrum. To date, 40 families with PRS deficiency have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163205">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371919"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371919</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.">C1834846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371919">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373087"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373087</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.">C1836439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) is associated with more complicated phenotypes than PEO caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325237"><div><strong>Amyotrophic lateral sclerosis type 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325237</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.">C1837728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325237">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344273"><div><strong>Nemaline myopathy 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344273</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.">C1854380</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 severe infantile nemaline myopathy-5A (NEM5A) is a skeletal muscle disorder characterized by symptom onset soon after birth or in early infancy. Affected infants show axial hypotonia, stiffness, rigid spine with progressive kyphosis, pectus deformities, and contractures or limited movement of the large joints. Some patients show transient tremors. There is muscle atrophy and poor gross motor development. Respiratory insufficiency develops in the first years of life, often leading to death. Muscle biopsy shows nemaline rods (Johnston et al., 2000; Geraud et al., 2021). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344273">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_349893"><div><strong>Triosephosphate isomerase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349893</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.">C1860808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350480"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350480</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.">C1864668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia-4 (PEOA4) is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350480">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370585"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2M</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370585</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.">C1969040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/370585">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762102"><div><strong>Congenital myopathy 10b, mild variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762102</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.">C3541476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-10B (CMYO10B) is an autosomal recessive skeletal muscle disorder characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation. Other common features include facial and neck muscle weakness, feeding difficulties, contractures, scoliosis, high-arched palate, hyporeflexia, and difficulties walking. The disorder is slowly progressive and most patients follow a chronic course. Muscle biopsy shows variable findings, including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization (Boyden et al., 2012; Harris et al., 2018). Patients with missense mutations affecting conserved cysteine residues in the EGF-like domain show the mild variant phenotype (CMYO10B) with later onset of respiratory failure and minicores on muscle biopsy, whereas patients with more damaging mutations, including nonsense or frameshift null mutations, show the severe variant phenotype (CMYO10A) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762102">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_764868"><div><strong>Coenzyme Q10 deficiency, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764868</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.">C3551954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009). The disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); and Leigh syndrome with growth retardation (van Maldergem et al., 2002). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency See also COQ10D2 (614651), caused by mutation in the PDSS1 gene (607429) on chromosome 10p12; COQ10D3 (614652), caused by mutation in the PDSS2 gene (610564) on chromosome 6q21; COQ10D4 (612016), caused by mutation in the COQ8 gene (ADCK3; 606980) on chromosome 1q42; COQ10D5 (614654), caused by mutation in the COQ9 gene (612837) on chromosome 16q21; COQ10D6 (614650), caused by mutation in the COQ6 gene (614647) on chromosome 14q24; COQ10D7 (616276), caused by mutation in the COQ4 gene (612898) on chromosome 9q34; COQ10D8 (616733), caused by mutation in the COQ7 gene (601683) on chromosome 16p13; and COQ10D9 (619028), caused by mutation in the COQ5 gene (616359) on chromosome 12q24. Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; 231680), caused by mutation in the ETFDH gene (231675) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; 208920), caused by mutation in the APTX gene (606350) on chromosome 9p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/764868">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766915"><div><strong>Peroxisome biogenesis disorder 11B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766915</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.">C3554001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766915">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863113"><div><strong>Ataxia-telangiectasia-like disorder 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863113</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.">C4014676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ataxia-telangiectasia-like disorder-2 (ATLD2) is an autosomal recessive syndrome resulting from defects in DNA excision repair. Affected individuals have a neurodegenerative phenotype characterized by developmental delay, ataxia, and sensorineural hearing loss. Other features include short stature, cutaneous and ocular telangiectasia, and photosensitivity (summary by Baple et al., 2014). For a discussion of genetic heterogeneity of ATLD, see ATLD1 (604391).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863113">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_1634824"><div><strong>Myopathy, lactic acidosis, and sideroblastic anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634824</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.">C4551958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634824">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648314"><div><strong>Myofibrillar myopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648314</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.">C4721886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648314">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1762338"><div><strong>Combined oxidative phosphorylation deficiency 49</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762338</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.">C5436616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1762338">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794190"><div><strong>Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794190</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.">C5561980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency. Features of the disorder appear soon after birth, although endocrine anomalies are not noted until puberty. The severity of the phenotype is variable: some patients may lose ambulation and have significant respiratory insufficiency, whereas others retain the ability to walk (Foley et al., 2020).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794190">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1824047"><div><strong>Muscular dystrophy, congenital, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824047</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.">C5774274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy with or without seizures (MYOS) is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy on MRI (summary by Larson et al., 2018 and Henige et al., 2021).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824047">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1840995"><div><strong>Amyotrophic lateral sclerosis 27, juvenile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840995</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.">C5830359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Juvenile amyotrophic lateral sclerosis-27 (ALS27) is an autosomal dominant disorder characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms (Mohassel et al., 2021). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1840995">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis 27, juvenile</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arts syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863113" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia-like disorder 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370585" 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 2M</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', 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_764868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coenzyme Q10 deficiency, primary, 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1762338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 49</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 10b, mild variant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marinesco-Sjögren syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple symmetric lipomatosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, congenital, with or without seizures</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, lactic acidosis, and sideroblastic anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 11B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triosephosphate isomerase deficiency</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38607761">Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaidman CM,
|
||
Goedeker NL,
|
||
Aqul AA,
|
||
Butterfield RJ,
|
||
Connolly AM,
|
||
Crystal RG,
|
||
Godwin KE,
|
||
Hor KN,
|
||
Mathews KD,
|
||
Proud CM,
|
||
Kula Smyth E,
|
||
Veerapandiyan A,
|
||
Watkins PB,
|
||
Mendell JR</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(3):687-699.
|
||
doi: 10.3233/JND-230185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38607761" target="_blank">38607761</a><a href="/pmc/articles/PMC11091590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37542300">Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Łusakowska A,
|
||
Wójcik A,
|
||
Frączek A,
|
||
Aragon-Gawińska K,
|
||
Potulska-Chromik A,
|
||
Baranowski P,
|
||
Nowak R,
|
||
Rosiak G,
|
||
Milczarek K,
|
||
Konecki D,
|
||
Gierlak-Wójcicka Z,
|
||
Burlewicz M,
|
||
Kostera-Pruszczyk A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Aug 4;18(1):230.
|
||
doi: 10.1186/s13023-023-02769-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37542300" target="_blank">37542300</a><a href="/pmc/articles/PMC10401775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31707373">Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schorling DC,
|
||
Pechmann A,
|
||
Kirschner J</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2020;7(1):1-13.
|
||
doi: 10.3233/JND-190424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31707373" target="_blank">31707373</a><a href="/pmc/articles/PMC7029319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20muscle%20weakness%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 (62)</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/37329941">Polymyositis and dermatomyositis biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Hu X,
|
||
Wang J,
|
||
Xu Q,
|
||
Han Z,
|
||
Zhou H,
|
||
Gao M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2023 Jul 1;547:117443.
|
||
Epub 2023 Jun 15
|
||
doi: 10.1016/j.cca.2023.117443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37329941" target="_blank">37329941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34736624">The DMD gene and therapeutic approaches to restore dystrophin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortunato F,
|
||
Farnè M,
|
||
Ferlini A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Oct;31(10):1013-1020.
|
||
doi: 10.1016/j.nmd.2021.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34736624" target="_blank">34736624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34572129">Muscle-Related Plectinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zrelski MM,
|
||
Kustermann M,
|
||
Winter L</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Sep 19;10(9)
|
||
doi: 10.3390/cells10092480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34572129" target="_blank">34572129</a><a href="/pmc/articles/PMC8466646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31639376">Stem cell-based therapies for Duchenne muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun C,
|
||
Serra C,
|
||
Lee G,
|
||
Wagner KR</span><br />
|
||
<span class="medgenPMjournal">Exp Neurol</span>
|
||
2020 Jan;323:113086.
|
||
Epub 2019 Oct 19
|
||
doi: 10.1016/j.expneurol.2019.113086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31639376" target="_blank">31639376</a><a href="/pmc/articles/PMC6899334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21256014">Myofibrillar myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selcen D</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2011 Mar;21(3):161-71.
|
||
Epub 2011 Jan 20
|
||
doi: 10.1016/j.nmd.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21256014" target="_blank">21256014</a><a href="/pmc/articles/PMC3052736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20muscle%20weakness%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 (264)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37329941">Polymyositis and dermatomyositis biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Hu X,
|
||
Wang J,
|
||
Xu Q,
|
||
Han Z,
|
||
Zhou H,
|
||
Gao M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2023 Jul 1;547:117443.
|
||
Epub 2023 Jun 15
|
||
doi: 10.1016/j.cca.2023.117443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37329941" target="_blank">37329941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32526057">Amyotrophic lateral sclerosis: a clinical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masrori P,
|
||
Van Damme P</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2020 Oct;27(10):1918-1929.
|
||
Epub 2020 Jul 7
|
||
doi: 10.1111/ene.14393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32526057" target="_blank">32526057</a><a href="/pmc/articles/PMC7540334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31707373">Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schorling DC,
|
||
Pechmann A,
|
||
Kirschner J</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2020;7(1):1-13.
|
||
doi: 10.3233/JND-190424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31707373" target="_blank">31707373</a><a href="/pmc/articles/PMC7029319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27311223">Inflammatory Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atluri RB</span><br />
|
||
<span class="medgenPMjournal">Mo Med</span>
|
||
2016 Mar-Apr;113(2):127-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27311223" target="_blank">27311223</a><a href="/pmc/articles/PMC6139945" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26457695">Duchenne Muscular Dystrophy: From Diagnosis to Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falzarano MS,
|
||
Scotton C,
|
||
Passarelli C,
|
||
Ferlini A</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2015 Oct 7;20(10):18168-84.
|
||
doi: 10.3390/molecules201018168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26457695" target="_blank">26457695</a><a href="/pmc/articles/PMC6332113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20muscle%20weakness%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 (361)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38436327">Exercise recommendations for patients with myositis: a narrative review of safety and efficacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varone N,
|
||
Hinojosa J,
|
||
Nandakumar D,
|
||
Modi N,
|
||
Bhashyam AR,
|
||
Bhai SF</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2024 Feb;42(2):436-444.
|
||
Epub 2024 Feb 20
|
||
doi: 10.55563/clinexprheumatol/m8fbs1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38436327" target="_blank">38436327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37542300">Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Łusakowska A,
|
||
Wójcik A,
|
||
Frączek A,
|
||
Aragon-Gawińska K,
|
||
Potulska-Chromik A,
|
||
Baranowski P,
|
||
Nowak R,
|
||
Rosiak G,
|
||
Milczarek K,
|
||
Konecki D,
|
||
Gierlak-Wójcicka Z,
|
||
Burlewicz M,
|
||
Kostera-Pruszczyk A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Aug 4;18(1):230.
|
||
doi: 10.1186/s13023-023-02769-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37542300" target="_blank">37542300</a><a href="/pmc/articles/PMC10401775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26457695">Duchenne Muscular Dystrophy: From Diagnosis to Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falzarano MS,
|
||
Scotton C,
|
||
Passarelli C,
|
||
Ferlini A</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2015 Oct 7;20(10):18168-84.
|
||
doi: 10.3390/molecules201018168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26457695" target="_blank">26457695</a><a href="/pmc/articles/PMC6332113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22196485">Spinal muscular atrophy: a clinical and research update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markowitz JA,
|
||
Singh P,
|
||
Darras BT</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2012 Jan;46(1):1-12.
|
||
doi: 10.1016/j.pediatrneurol.2011.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22196485" target="_blank">22196485</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20muscle%20weakness%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 (211)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37329941">Polymyositis and dermatomyositis biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Hu X,
|
||
Wang J,
|
||
Xu Q,
|
||
Han Z,
|
||
Zhou H,
|
||
Gao M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2023 Jul 1;547:117443.
|
||
Epub 2023 Jun 15
|
||
doi: 10.1016/j.cca.2023.117443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37329941" target="_blank">37329941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35809776">Bidirectional roles of skeletal muscle fibro-adipogenic progenitors in homeostasis and disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen W,
|
||
You W,
|
||
Valencak TG,
|
||
Shan T</span><br />
|
||
<span class="medgenPMjournal">Ageing Res Rev</span>
|
||
2022 Sep;80:101682.
|
||
Epub 2022 Jul 6
|
||
doi: 10.1016/j.arr.2022.101682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35809776" target="_blank">35809776</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35168641">Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salari N,
|
||
Fatahi B,
|
||
Valipour E,
|
||
Kazeminia M,
|
||
Fatahian R,
|
||
Kiaei A,
|
||
Shohaimi S,
|
||
Mohammadi M</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2022 Feb 15;17(1):96.
|
||
doi: 10.1186/s13018-022-02996-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35168641" target="_blank">35168641</a><a href="/pmc/articles/PMC8848641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34837441">Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujise K,
|
||
Okubo M,
|
||
Abe T,
|
||
Yamada H,
|
||
Takei K,
|
||
Nishino I,
|
||
Takeda T,
|
||
Noguchi S</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2022 Feb;43(2):169-179.
|
||
Epub 2021 Dec 19
|
||
doi: 10.1002/humu.24307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34837441" target="_blank">34837441</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31707373">Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schorling DC,
|
||
Pechmann A,
|
||
Kirschner J</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2020;7(1):1-13.
|
||
doi: 10.3233/JND-190424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31707373" target="_blank">31707373</a><a href="/pmc/articles/PMC7029319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20muscle%20weakness%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 (174)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37542300">Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Łusakowska A,
|
||
Wójcik A,
|
||
Frączek A,
|
||
Aragon-Gawińska K,
|
||
Potulska-Chromik A,
|
||
Baranowski P,
|
||
Nowak R,
|
||
Rosiak G,
|
||
Milczarek K,
|
||
Konecki D,
|
||
Gierlak-Wójcicka Z,
|
||
Burlewicz M,
|
||
Kostera-Pruszczyk A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Aug 4;18(1):230.
|
||
doi: 10.1186/s13023-023-02769-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37542300" target="_blank">37542300</a><a href="/pmc/articles/PMC10401775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37329941">Polymyositis and dermatomyositis biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Hu X,
|
||
Wang J,
|
||
Xu Q,
|
||
Han Z,
|
||
Zhou H,
|
||
Gao M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2023 Jul 1;547:117443.
|
||
Epub 2023 Jun 15
|
||
doi: 10.1016/j.cca.2023.117443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37329941" target="_blank">37329941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35809776">Bidirectional roles of skeletal muscle fibro-adipogenic progenitors in homeostasis and disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen W,
|
||
You W,
|
||
Valencak TG,
|
||
Shan T</span><br />
|
||
<span class="medgenPMjournal">Ageing Res Rev</span>
|
||
2022 Sep;80:101682.
|
||
Epub 2022 Jul 6
|
||
doi: 10.1016/j.arr.2022.101682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35809776" target="_blank">35809776</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35168641">Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salari N,
|
||
Fatahi B,
|
||
Valipour E,
|
||
Kazeminia M,
|
||
Fatahian R,
|
||
Kiaei A,
|
||
Shohaimi S,
|
||
Mohammadi M</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2022 Feb 15;17(1):96.
|
||
doi: 10.1186/s13018-022-02996-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35168641" target="_blank">35168641</a><a href="/pmc/articles/PMC8848641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20muscle%20weakness%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 (187)</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37926865">FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao X,
|
||
Li M,
|
||
Ye Z,
|
||
He X,
|
||
Wei J,
|
||
Zha Y</span><br />
|
||
<span class="medgenPMjournal">Amyotroph Lateral Scler Frontotemporal Degener</span>
|
||
2024 Feb;25(1-2):1-15.
|
||
Epub 2024 Jan 23
|
||
doi: 10.1080/21678421.2023.2272170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37926865" target="_blank">37926865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37010885">A systematic review and meta-analysis on the prevalence and clinical characteristics of dysphagia in patients with dermatomyositis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng I,
|
||
Wong CS</span><br />
|
||
<span class="medgenPMjournal">Neurogastroenterol Motil</span>
|
||
2023 Sep;35(9):e14572.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1111/nmo.14572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37010885" target="_blank">37010885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36011430">EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandes IAM,
|
||
Menezes ROA,
|
||
Rego G</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Aug 9;19(16)
|
||
doi: 10.3390/ijerph19169792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36011430" target="_blank">36011430</a><a href="/pmc/articles/PMC9407777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35168641">Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salari N,
|
||
Fatahi B,
|
||
Valipour E,
|
||
Kazeminia M,
|
||
Fatahian R,
|
||
Kiaei A,
|
||
Shohaimi S,
|
||
Mohammadi M</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2022 Feb 15;17(1):96.
|
||
doi: 10.1186/s13018-022-02996-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35168641" target="_blank">35168641</a><a href="/pmc/articles/PMC8848641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20muscle%20weakness%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 (29)</a></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Progressive%20muscle%20weakness" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<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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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20muscle%20weakness%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Progressive%20muscle%20weakness%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 href="/pubmed?term=Progressive%20muscle%20weakness%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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