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<meta name="keywords" content="C2677565, als10, als10 - amyotrophic lateral sclerosis type 10, amyotrophic lateral sclerosis 10, amyotrophic lateral sclerosis 10 with or without frontotemporal dementia, amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with tdp43 inclusions, amyotrophic lateral sclerosis 10 without frontotemporal dementia and with tdp43 inclusions, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia, amyotrophic lateral sclerosis 10, with or without ftd, amyotrophic lateral sclerosis caused by mutation in tardbp, amyotrophic lateral sclerosis type 10, disease or syndrome, frontotemporal dementia with tdp43 inclusions, tardbp-related, frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related, frontotemporal lobar degeneration, tardbp-related, ftld-tdp, tardbp-related, tardbp, tardbp amyotrophic lateral sclerosis, tardbp-related amyotrophic lateral sclerosis, tardbp-related frontotemporal lobar degeneration with tdp43 inclusions, 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="In this GeneReview, TARDBP amyotrophic lateral sclerosis-frontotemporal dementia (TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in TARDBP, the gene encoding TDP-43. The phenotypic spectrum encompasses pure (i.e., without other neurologic findings) amyotrophic lateral sclerosis (ALS; most common), pure (i.e., without other neurologic findings) frontotemporal dementia (FTD; rare), a combination of ALS and FTD, and atypical neurologic phenotypes (very rare). Individuals with the same TARDBP pathogenic variant (even within the same family) may have clinical features that vary in both type and severity. Common manifestations are dysarthria and dysphagia; less common manifestations can include parkinsonism, cognitive deterioration, and behavioral and psychological manifestations of dementia. Life expectancy for TARDBP-ALS is highly variable and mainly associated with an individual's clinical features; overall disease duration averages three to five years. For TARDBP-FTD, disease duration averages one to 16 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Amyotrophic lateral sclerosis type 10 (Concept Id: C2677565)
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<!--
UID=383137
ConceptID=C2677565
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Amyotrophic lateral sclerosis type 10<span class="h1sub">(ALS10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383137</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)&#10;Click for more information.">C2677565</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>ALS10; AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; Amyotrophic lateral sclerosis 10, with or without FTD; TARDBP-Related Amyotrophic Lateral Sclerosis</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>ALS10 - amyotrophic lateral sclerosis type 10 (1208412003); Amyotrophic lateral sclerosis type 10 (1208412003)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="TARDBP - ID: 23435 - NCBI Gene" href="/gene/23435" class="medgenPMinfo">TARDBP</a> (1p36.22)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012790" target="_blank">MONDO:0012790</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/612069" target="_blank">612069</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">In this GeneReview, TARDBP amyotrophic lateral sclerosis-frontotemporal dementia (TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in TARDBP, the gene encoding TDP-43. The phenotypic spectrum encompasses pure (i.e., without other neurologic findings) amyotrophic lateral sclerosis (ALS; most common), pure (i.e., without other neurologic findings) frontotemporal dementia (FTD; rare), a combination of ALS and FTD, and atypical neurologic phenotypes (very rare). Individuals with the same TARDBP pathogenic variant (even within the same family) may have clinical features that vary in both type and severity. Common manifestations are dysarthria and dysphagia; less common manifestations can include parkinsonism, cognitive deterioration, and behavioral and psychological manifestations of dementia. Life expectancy for TARDBP-ALS is highly variable and mainly associated with an individual's clinical features; overall disease duration averages three to five years. For TARDBP-FTD, disease duration averages one to 16 years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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)&#10;Click for more information.">C0011168</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Difficulty in swallowing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_274"><div><strong>Amyotrophic lateral sclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>274</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)&#10;Click for more information.">C0002736</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.\n\nThere are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS.\n\nThe first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals.\n\nApproximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD.\n\nA rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/274">Feature record</a> | <a href="/medgen?term=%22Amyotrophic%20lateral%20sclerosis%22%5BClinical%20Features%5D%20OR%20274%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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)&#10;Click for more information.">C0013362</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5769"><div><strong>Impulse control disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5769</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)&#10;Click for more information.">C0021122</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5769">Feature record</a> | <a href="/medgen?term=%22Impulse%20control%20disorder%22%5BClinical%20Features%5D%20OR%205769%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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)&#10;Click for more information.">C0026838</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</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)&#10;Click for more information.">C0034935</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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)&#10;Click for more information.">C0038271</a></dd><dt><span class="dotprefix"></span></dt><dd>Individual Behavior</dd></dl></div></div></div>
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39083"><div><strong>Apathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39083</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)&#10;Click for more information.">C0085632</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39083">Feature record</a> | <a href="/medgen?term=%22Apathy%22%5BClinical%20Features%5D%20OR%2039083%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39319"><div><strong>Emotional lability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</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)&#10;Click for more information.">C0085633</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39319">Feature record</a> | <a href="/medgen?term=%22Emotional%20lability%22%5BClinical%20Features%5D%20OR%2039319%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66686"><div><strong>Perseverative thought</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66686</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)&#10;Click for more information.">C0233651</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">The repetitive production of the same response to different commands.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66686">Feature record</a> | <a href="/medgen?term=%22Perseverative%20thought%22%5BClinical%20Features%5D%20OR%2066686%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_83266"><div><strong>Frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83266</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)&#10;Click for more information.">C0338451</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).&#13; Clinical Variability of Tauopathies&#13; Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.&#13; Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104).&#13; Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001).&#13; Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.&#13; Genetic Heterogeneity of Frontotemporal Lobar Degeneration&#13; Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21.&#13; In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/83266">Feature record</a> | <a href="/medgen?term=%22Frontotemporal%20dementia%22%5BClinical%20Features%5D%20OR%2083266%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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)&#10;Click for more information.">C0151786</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced strength of muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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)&#10;Click for more information.">C0541794</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_812797"><div><strong>Respiratory insufficiency due to muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812797</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)&#10;Click for more information.">C3806467</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812797">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%20due%20to%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20812797%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional lability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impulse control disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perseverative thought</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency due to muscle weakness</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<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>
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002736[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=274">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=274">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=274" ref="ncbi_uid=274">V</a></span></span><span class="TLline"><a href="/medgen/274" ref="tree=GTR&amp;ncbi_uid=274&amp;link_uid=274" title="View MedGen record for 'Amyotrophic lateral sclerosis'">Amyotrophic lateral sclerosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1862939[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=400169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400169" target="_blank" href="/omim/105400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=400169">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=400169" ref="ncbi_uid=400169">V</a></span></span><span class="TLline"><a href="/medgen/400169" ref="tree=GTR&amp;ncbi_uid=400169&amp;link_uid=400169" title="View MedGen record for 'Amyotrophic lateral sclerosis type 1'">Amyotrophic lateral sclerosis type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339829" target="_blank" href="/omim/606640">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=339829">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/339829" ref="tree=GTR&amp;ncbi_uid=339829&amp;link_uid=339829" title="View MedGen record for 'Amyotrophic lateral sclerosis type 3'">Amyotrophic lateral sclerosis type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865409[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355983">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355983" target="_blank" href="/omim/602433">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=355983">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=355983" ref="ncbi_uid=355983">V</a></span></span><span class="TLline"><a href="/medgen/355983" ref="tree=GTR&amp;ncbi_uid=355983&amp;link_uid=355983" title="View MedGen record for 'Amyotrophic lateral sclerosis type 4'">Amyotrophic lateral sclerosis type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931786[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=419901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419901" target="_blank" href="/omim/137070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=419901">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=419901" ref="ncbi_uid=419901">V</a></span></span><span class="TLline"><a href="/medgen/419901" ref="tree=GTR&amp;ncbi_uid=419901&amp;link_uid=419901" title="View MedGen record for 'Amyotrophic lateral sclerosis type 6'">Amyotrophic lateral sclerosis type 6</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413027" target="_blank" href="/omim/137070">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=413027" ref="ncbi_uid=413027">V</a></span></span><span class="TLline"><a href="/medgen/413027" ref="tree=GTR&amp;ncbi_uid=413027&amp;link_uid=413027" title="View MedGen record for 'Amyotrophic lateral sclerosis 6, autosomal recessive'">Amyotrophic lateral sclerosis 6, autosomal recessive</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334136" target="_blank" href="/omim/608031">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=334136">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/334136" ref="tree=GTR&amp;ncbi_uid=334136&amp;link_uid=334136" title="View MedGen record for 'Amyotrophic lateral sclerosis type 7'">Amyotrophic lateral sclerosis type 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837728[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=325237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325237" target="_blank" href="/omim/605704">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=325237">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=325237" ref="ncbi_uid=325237">V</a></span></span><span class="TLline"><a href="/medgen/325237" ref="tree=GTR&amp;ncbi_uid=325237&amp;link_uid=325237" title="View MedGen record for 'Amyotrophic lateral sclerosis type 8'">Amyotrophic lateral sclerosis type 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678468[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=395629">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395629" target="_blank" href="/omim/105850">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=395629">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=395629" ref="ncbi_uid=395629">V</a></span></span><span class="TLline"><a href="/medgen/395629" ref="tree=GTR&amp;ncbi_uid=395629&amp;link_uid=395629" title="View MedGen record for 'Amyotrophic lateral sclerosis type 9'">Amyotrophic lateral sclerosis type 9</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677565[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=383137">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383137" target="_blank" href="/omim/612069">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1450%20OR%20NBK5942)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=383137">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=383137" ref="ncbi_uid=383137">V</a></span></span><span class="TLline">Amyotrophic lateral sclerosis type 10</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675491[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=393399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393399" target="_blank" href="/omim/609390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=393399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=393399" ref="ncbi_uid=393399">V</a></span></span><span class="TLline"><a href="/medgen/393399" ref="tree=GTR&amp;ncbi_uid=393399&amp;link_uid=393399" title="View MedGen record for 'Amyotrophic lateral sclerosis type 11'">Amyotrophic lateral sclerosis type 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3468114[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=923704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=923704" ref="ncbi_uid=923704">V</a></span></span><span class="TLline"><a href="/medgen/923704" ref="tree=GTR&amp;ncbi_uid=923704&amp;link_uid=923704" title="View MedGen record for 'Juvenile amyotrophic lateral sclerosis'">Juvenile amyotrophic lateral sclerosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865864[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=356388">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356388" target="_blank" href="/omim/602099">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=356388">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=356388" ref="ncbi_uid=356388">V</a></span></span><span class="TLline"><a href="/medgen/356388" ref="tree=GTR&amp;ncbi_uid=356388&amp;link_uid=356388" title="View MedGen record for 'Amyotrophic lateral sclerosis type 5'">Amyotrophic lateral sclerosis type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280587[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=482217">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482217" target="_blank" href="/omim/601978">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=482217">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=482217" ref="ncbi_uid=482217">V</a></span></span><span class="TLline"><a href="/medgen/482217" ref="tree=GTR&amp;ncbi_uid=482217&amp;link_uid=482217" title="View MedGen record for 'Amyotrophic lateral sclerosis type 16'">Amyotrophic lateral sclerosis type 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859807[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=349246">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349246" target="_blank" href="/omim/205100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1243%20OR%20NBK1450)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=349246">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=349246" ref="ncbi_uid=349246">V</a></span></span><span class="TLline"><a href="/medgen/349246" ref="tree=GTR&amp;ncbi_uid=349246&amp;link_uid=349246" title="View MedGen record for 'Amyotrophic lateral sclerosis type 2, juvenile'">Amyotrophic lateral sclerosis type 2, juvenile</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/224837" ref="tree=MeSH" title="MedGen record for Degenerative disorder">Degenerative disorder</a></span><ul><li><span class="TLline"><a href="/medgen/124363" ref="tree=MeSH" title="MedGen record for Degenerative disease of the central nervous system">Degenerative disease of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/274" ref="tree=MeSH" title="MedGen record for Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></span><ul><li><span class="matched_ds">Amyotrophic lateral sclerosis type 10</span></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_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/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
Ellis C,
Brassington R,
Sathasivam S,
Young CA</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2022 May 20;5(5):CD006981.
doi: 10.1002/14651858.CD006981.pub3.
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32006461">Drug treatment for spinal muscular atrophy types II and III.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
van der Pol WL,
Bosboom WM,
Asselman FL,
van den Berg LH,
Iannaccone ST,
Vrancken AF</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2020 Jan 6;1(1):CD006282.
doi: 10.1002/14651858.CD006282.pub5.
<span class="bold">PMID: </span><a href="/pubmed/32006461" target="_blank">32006461</a><a href="/pmc/articles/PMC6995983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30180501">Genetic testing in amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nakken O,
Sørum L,
Holmøy T</span><br />
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
2018 Sep 4;138(13)
Epub 2018 Sep 3
doi: 10.4045/tidsskr.18.0193.
<span class="bold">PMID: </span><a href="/pubmed/30180501" target="_blank">30180501</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyotrophic%20lateral%20sclerosis%20type%2010)%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 (15)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_AmyotrophicLateralSclerosis.pdf" target="_blank">Orphanet, Amyotrophic lateral sclerosis, 2007</a></h3>
</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/38702287">Distal hereditary motor neuropathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tazir M,
Nouioua S</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
2024 Dec;180(10):1031-1036.
Epub 2024 May 3
doi: 10.1016/j.neurol.2023.09.005.
<span class="bold">PMID: </span><a href="/pubmed/38702287" target="_blank">38702287</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
Ellis C,
Brassington R,
Sathasivam S,
Young CA</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2022 May 20;5(5):CD006981.
doi: 10.1002/14651858.CD006981.pub3.
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31690614">Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatwin M,
Simonds AK</span><br />
<span class="medgenPMjournal">Respir Care</span>
2020 Feb;65(2):135-143.
Epub 2019 Nov 5
doi: 10.4187/respcare.06882.
<span class="bold">PMID: </span><a href="/pubmed/31690614" target="_blank">31690614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23827971">Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salminen A,
Kaarniranta K,
Kauppinen A,
Ojala J,
Haapasalo A,
Soininen H,
Hiltunen M</span><br />
<span class="medgenPMjournal">Prog Neurobiol</span>
2013 Jul-Aug;106-107:33-54.
Epub 2013 Jul 1
doi: 10.1016/j.pneurobio.2013.06.002.
<span class="bold">PMID: </span><a href="/pubmed/23827971" target="_blank">23827971</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19922118">Prognostic factors in ALS: A critical review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiò A,
Logroscino G,
Hardiman O,
Swingler R,
Mitchell D,
Beghi E,
Traynor BG;
Eurals Consortium</span><br />
<span class="medgenPMjournal">Amyotroph Lateral Scler</span>
2009 Oct-Dec;10(5-6):310-23.
doi: 10.3109/17482960802566824.
<span class="bold">PMID: </span><a href="/pubmed/19922118" target="_blank">19922118</a><a href="/pmc/articles/PMC3515205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2010%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/38702287">Distal hereditary motor neuropathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tazir M,
Nouioua S</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
2024 Dec;180(10):1031-1036.
Epub 2024 May 3
doi: 10.1016/j.neurol.2023.09.005.
<span class="bold">PMID: </span><a href="/pubmed/38702287" target="_blank">38702287</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34459874">Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JO,
Chia R,
Miller DE,
Li R,
Kumaran R,
Abramzon Y,
Alahmady N,
Renton AE,
Topp SD,
Gibbs JR,
Cookson MR,
Sabir MS,
Dalgard CL,
Troakes C,
Jones AR,
Shatunov A,
Iacoangeli A,
Al Khleifat A,
Ticozzi N,
Silani V,
Gellera C,
Blair IP,
Dobson-Stone C,
Kwok JB,
Bonkowski ES,
Palvadeau R,
Tienari PJ,
Morrison KE,
Shaw PJ,
Al-Chalabi A,
Brown RH Jr,
Calvo A,
Mora G,
Al-Saif H,
Gotkine M,
Leigh F,
Chang IJ,
Perlman SJ,
Glass I,
Scott AI,
Shaw CE,
Basak AN,
Landers JE,
Chiò A,
Crawford TO,
Smith BN,
Traynor BJ;
FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium,
Smith BN,
Ticozzi N,
Fallini C,
Gkazi AS,
Topp SD,
Scotter EL,
Kenna KP,
Keagle P,
Tiloca C,
Vance C,
Troakes C,
Colombrita C,
King A,
Pensato V,
Castellotti B,
Baas F,
Ten Asbroek ALMA,
McKenna-Yasek D,
McLaughlin RL,
Polak M,
Asress S,
Esteban-Pérez J,
Stevic Z,
D'Alfonso S,
Mazzini L,
Comi GP,
Del Bo R,
Ceroni M,
Gagliardi S,
Querin G,
Bertolin C,
van Rheenen W,
Rademakers R,
van Blitterswijk M,
Lauria G,
Duga S,
Corti S,
Cereda C,
Corrado L,
Sorarù G,
Williams KL,
Nicholson GA,
Blair IP,
Leblond-Manry C,
Rouleau GA,
Hardiman O,
Morrison KE,
Veldink JH,
van den Berg LH,
Al-Chalabi A,
Pall H,
Shaw PJ,
Turner MR,
Talbot K,
Taroni F,
García-Redondo A,
Wu Z,
Glass JD,
Gellera C,
Ratti A,
Brown RH Jr,
Silani V,
Shaw CE,
Landers JE,
Dalgard CL,
Adeleye A,
Soltis AR,
Alba C,
Viollet C,
Bacikova D,
Hupalo DN,
Sukumar G,
Pollard HB,
Wilkerson MD,
Martinez EM,
Abramzon Y,
Ahmed S,
Arepalli S,
Baloh RH,
Bowser R,
Brady CB,
Brice A,
Broach J,
Campbell RH,
Camu W,
Chia R,
Cooper-Knock J,
Ding J,
Drepper C,
Drory VE,
Dunckley TL,
Eicher JD,
England BK,
Faghri F,
Feldman E,
Floeter MK,
Fratta P,
Geiger JT,
Gerhard G,
Gibbs JR,
Gibson SB,
Glass JD,
Hardy J,
Harms MB,
Heiman-Patterson TD,
Hernandez DG,
Jansson L,
Kirby J,
Kowall NW,
Laaksovirta H,
Landeck N,
Landi F,
Le Ber I,
Lumbroso S,
MacGowan DJL,
Maragakis NJ,
Mora G,
Mouzat K,
Murphy NA,
Myllykangas L,
Nalls MA,
Orrell RW,
Ostrow LW,
Pamphlett R,
Pickering-Brown S,
Pioro EP,
Pletnikova O,
Pliner HA,
Pulst SM,
Ravits JM,
Renton AE,
Rivera A,
Robberecht W,
Rogaeva E,
Rollinson S,
Rothstein JD,
Scholz SW,
Sendtner M,
Shaw PJ,
Sidle KC,
Simmons Z,
Singleton AB,
Smith N,
Stone DJ,
Tienari PJ,
Troncoso JC,
Valori M,
Van Damme P,
Van Deerlin VM,
Van Den Bosch L,
Zinman L,
Landers JE,
Chiò A,
Traynor BJ,
Angelocola SM,
Ausiello FP,
Barberis M,
Bartolomei I,
Battistini S,
Bersano E,
Bisogni G,
Borghero G,
Brunetti M,
Cabona C,
Calvo A,
Canale F,
Canosa A,
Cantisani TA,
Capasso M,
Caponnetto C,
Cardinali P,
Carrera P,
Casale F,
Chiò A,
Colletti T,
Conforti FL,
Conte A,
Conti E,
Corbo M,
Cuccu S,
Dalla Bella E,
D'Errico E,
DeMarco G,
Dubbioso R,
Ferrarese C,
Ferraro PM,
Filippi M,
Fini N,
Floris G,
Fuda G,
Gallone S,
Gianferrari G,
Giannini F,
Grassano M,
Greco L,
Iazzolino B,
Introna A,
La Bella V,
Lattante S,
Lauria G,
Liguori R,
Logroscino G,
Logullo FO,
Lunetta C,
Mandich P,
Mandrioli J,
Manera U,
Manganelli F,
Marangi G,
Marinou K,
Marrosu MG,
Martinelli I,
Messina S,
Moglia C,
Mora G,
Mosca L,
Murru MR,
Origone P,
Passaniti C,
Petrelli C,
Petrucci A,
Pozzi S,
Pugliatti M,
Quattrini A,
Ricci C,
Riolo G,
Riva N,
Russo M,
Sabatelli M,
Salamone P,
Salivetto M,
Salvi F,
Santarelli M,
Sbaiz L,
Sideri R,
Simone I,
Simonini C,
Spataro R,
Tanel R,
Tedeschi G,
Ticca A,
Torriello A,
Tranquilli S,
Tremolizzo L,
Trojsi F,
Vasta R,
Vacchiano V,
Vita G,
Volanti P,
Zollino M,
Zucchi E</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2021 Oct 1;78(10):1236-1248.
doi: 10.1001/jamaneurol.2021.2598.
<span class="bold">PMID: </span><a href="/pubmed/34459874" target="_blank">34459874</a><a href="/pmc/articles/PMC8406220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31690614">Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatwin M,
Simonds AK</span><br />
<span class="medgenPMjournal">Respir Care</span>
2020 Feb;65(2):135-143.
Epub 2019 Nov 5
doi: 10.4187/respcare.06882.
<span class="bold">PMID: </span><a href="/pubmed/31690614" target="_blank">31690614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30180501">Genetic testing in amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nakken O,
Sørum L,
Holmøy T</span><br />
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
2018 Sep 4;138(13)
Epub 2018 Sep 3
doi: 10.4045/tidsskr.18.0193.
<span class="bold">PMID: </span><a href="/pubmed/30180501" target="_blank">30180501</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19922118">Prognostic factors in ALS: A critical review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiò A,
Logroscino G,
Hardiman O,
Swingler R,
Mitchell D,
Beghi E,
Traynor BG;
Eurals Consortium</span><br />
<span class="medgenPMjournal">Amyotroph Lateral Scler</span>
2009 Oct-Dec;10(5-6):310-23.
doi: 10.3109/17482960802566824.
<span class="bold">PMID: </span><a href="/pubmed/19922118" target="_blank">19922118</a><a href="/pmc/articles/PMC3515205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38402886">Sunitinib for metastatic progressive phaeochromocytomas and paragangliomas: results from FIRSTMAPPP, an academic, multicentre, international, randomised, placebo-controlled, double-blind, phase 2 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baudin E,
Goichot B,
Berruti A,
Hadoux J,
Moalla S,
Laboureau S,
Nölting S,
de la Fouchardière C,
Kienitz T,
Deutschbein T,
Zovato S,
Amar L,
Haissaguerre M,
Timmers H,
Niccoli P,
Faggiano A,
Angokai M,
Lamartina L,
Luca F,
Cosentini D,
Hahner S,
Beuschlein F,
Attard M,
Texier M,
Fassnacht M;
ENDOCAN-COMETE;
ENSAT Networks</span><br />
<span class="medgenPMjournal">Lancet</span>
2024 Mar 16;403(10431):1061-1070.
Epub 2024 Feb 22
doi: 10.1016/S0140-6736(23)02554-0.
<span class="bold">PMID: </span><a href="/pubmed/38402886" target="_blank">38402886</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
Moxley RT 3rd,
Eichinger K,
Heatwole C,
Mignon L,
Arnold WD,
Ashizawa T,
Day JW,
Dent G,
Tanner MK,
Duong T,
Greene EP,
Herbelin L,
Johnson NE,
King W,
Kissel JT,
Leung DG,
Lott DJ,
Norris DA,
Pucillo EM,
Schell W,
Statland JM,
Stinson N,
Subramony SH,
Xia S,
Bishop KM,
Bennett CF</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2023 Mar;22(3):218-228.
doi: 10.1016/S1474-4422(23)00001-7.
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
Ellis C,
Brassington R,
Sathasivam S,
Young CA</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2022 May 20;5(5):CD006981.
doi: 10.1002/14651858.CD006981.pub3.
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32653215">Botulinum toxin therapy improves masseter spasticity in Amyotrophic Lateral Sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mongin M,
Debs R,
Le Forestier N,
Lenglet T,
Salachas F,
Pradat PF,
Amador MD,
Bruneteau G,
Degos B</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
2020 Dec;176(10):870-873.
Epub 2020 Jul 8
doi: 10.1016/j.neurol.2020.04.022.
<span class="bold">PMID: </span><a href="/pubmed/32653215" target="_blank">32653215</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19922118">Prognostic factors in ALS: A critical review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiò A,
Logroscino G,
Hardiman O,
Swingler R,
Mitchell D,
Beghi E,
Traynor BG;
Eurals Consortium</span><br />
<span class="medgenPMjournal">Amyotroph Lateral Scler</span>
2009 Oct-Dec;10(5-6):310-23.
doi: 10.3109/17482960802566824.
<span class="bold">PMID: </span><a href="/pubmed/19922118" target="_blank">19922118</a><a href="/pmc/articles/PMC3515205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2010%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 (60)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39197036">Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sapaly D,
Cheguillaume F,
Weill L,
Clerc Z,
Biondi O,
Bendris S,
Buon C,
Slika R,
Piller E,
Sundaram VK,
da Silva Ramos A,
Amador MDM,
Lenglet T,
Debs R,
Le Forestier N,
Pradat PF,
Salachas F,
Lacomblez L,
Hesters A,
Borderie D,
Devos D,
Desnuelle C,
Rolland AS,
Periou B,
Vasseur S,
Chapart M,
Le Ber I,
Fauret-Amsellem AL,
Millecamps S,
Maisonobe T,
Leonard-Louis S,
Behin A,
Authier FJ,
Evangelista T,
Charbonnier F,
Bruneteau G</span><br />
<span class="medgenPMjournal">Brain</span>
2025 Mar 6;148(3):788-802.
doi: 10.1093/brain/awae270.
<span class="bold">PMID: </span><a href="/pubmed/39197036" target="_blank">39197036</a><a href="/pmc/articles/PMC11884649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
Moxley RT 3rd,
Eichinger K,
Heatwole C,
Mignon L,
Arnold WD,
Ashizawa T,
Day JW,
Dent G,
Tanner MK,
Duong T,
Greene EP,
Herbelin L,
Johnson NE,
King W,
Kissel JT,
Leung DG,
Lott DJ,
Norris DA,
Pucillo EM,
Schell W,
Statland JM,
Stinson N,
Subramony SH,
Xia S,
Bishop KM,
Bennett CF</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2023 Mar;22(3):218-228.
doi: 10.1016/S1474-4422(23)00001-7.
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31690614">Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatwin M,
Simonds AK</span><br />
<span class="medgenPMjournal">Respir Care</span>
2020 Feb;65(2):135-143.
Epub 2019 Nov 5
doi: 10.4187/respcare.06882.
<span class="bold">PMID: </span><a href="/pubmed/31690614" target="_blank">31690614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31501572">Cell-type-specific profiling of brain mitochondria reveals functional and molecular diversity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fecher C,
Trovò L,
Müller SA,
Snaidero N,
Wettmarshausen J,
Heink S,
Ortiz O,
Wagner I,
Kühn R,
Hartmann J,
Karl RM,
Konnerth A,
Korn T,
Wurst W,
Merkler D,
Lichtenthaler SF,
Perocchi F,
Misgeld T</span><br />
<span class="medgenPMjournal">Nat Neurosci</span>
2019 Oct;22(10):1731-1742.
Epub 2019 Sep 9
doi: 10.1038/s41593-019-0479-z.
<span class="bold">PMID: </span><a href="/pubmed/31501572" target="_blank">31501572</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19922118">Prognostic factors in ALS: A critical review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiò A,
Logroscino G,
Hardiman O,
Swingler R,
Mitchell D,
Beghi E,
Traynor BG;
Eurals Consortium</span><br />
<span class="medgenPMjournal">Amyotroph Lateral Scler</span>
2009 Oct-Dec;10(5-6):310-23.
doi: 10.3109/17482960802566824.
<span class="bold">PMID: </span><a href="/pubmed/19922118" target="_blank">19922118</a><a href="/pmc/articles/PMC3515205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2010%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 (65)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38702287">Distal hereditary motor neuropathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tazir M,
Nouioua S</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
2024 Dec;180(10):1031-1036.
Epub 2024 May 3
doi: 10.1016/j.neurol.2023.09.005.
<span class="bold">PMID: </span><a href="/pubmed/38702287" target="_blank">38702287</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
Moxley RT 3rd,
Eichinger K,
Heatwole C,
Mignon L,
Arnold WD,
Ashizawa T,
Day JW,
Dent G,
Tanner MK,
Duong T,
Greene EP,
Herbelin L,
Johnson NE,
King W,
Kissel JT,
Leung DG,
Lott DJ,
Norris DA,
Pucillo EM,
Schell W,
Statland JM,
Stinson N,
Subramony SH,
Xia S,
Bishop KM,
Bennett CF</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2023 Mar;22(3):218-228.
doi: 10.1016/S1474-4422(23)00001-7.
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
Ellis C,
Brassington R,
Sathasivam S,
Young CA</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2022 May 20;5(5):CD006981.
doi: 10.1002/14651858.CD006981.pub3.
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31690614">Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatwin M,
Simonds AK</span><br />
<span class="medgenPMjournal">Respir Care</span>
2020 Feb;65(2):135-143.
Epub 2019 Nov 5
doi: 10.4187/respcare.06882.
<span class="bold">PMID: </span><a href="/pubmed/31690614" target="_blank">31690614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31501572">Cell-type-specific profiling of brain mitochondria reveals functional and molecular diversity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fecher C,
Trovò L,
Müller SA,
Snaidero N,
Wettmarshausen J,
Heink S,
Ortiz O,
Wagner I,
Kühn R,
Hartmann J,
Karl RM,
Konnerth A,
Korn T,
Wurst W,
Merkler D,
Lichtenthaler SF,
Perocchi F,
Misgeld T</span><br />
<span class="medgenPMjournal">Nat Neurosci</span>
2019 Oct;22(10):1731-1742.
Epub 2019 Sep 9
doi: 10.1038/s41593-019-0479-z.
<span class="bold">PMID: </span><a href="/pubmed/31501572" target="_blank">31501572</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2010%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 (149)</a></div></div>
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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/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
Ellis C,
Brassington R,
Sathasivam S,
Young CA</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2022 May 20;5(5):CD006981.
doi: 10.1002/14651858.CD006981.pub3.
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32910255">A systematic review of neuropsychiatric and cognitive assessments used in clinical trials for amyotrophic lateral sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beswick E,
Park E,
Wong C,
Mehta AR,
Dakin R,
Chandran S,
Newton J,
Carson A,
Abrahams S,
Pal S</span><br />
<span class="medgenPMjournal">J Neurol</span>
2021 Dec;268(12):4510-4521.
Epub 2020 Sep 10
doi: 10.1007/s00415-020-10203-z.
<span class="bold">PMID: </span><a href="/pubmed/32910255" target="_blank">32910255</a><a href="/pmc/articles/PMC8563523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31037421">Cervical spondylotic amyotrophy: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Luo W,
Li Y,
Xu Q,
Gu R,
Zhao J</span><br />
<span class="medgenPMjournal">Eur Spine J</span>
2019 Oct;28(10):2293-2301.
Epub 2019 Apr 29
doi: 10.1007/s00586-019-05990-7.
<span class="bold">PMID: </span><a href="/pubmed/31037421" target="_blank">31037421</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21047878">Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Byrne S,
Walsh C,
Lynch C,
Bede P,
Elamin M,
Kenna K,
McLaughlin R,
Hardiman O</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2011 Jun;82(6):623-7.
Epub 2010 Nov 3
doi: 10.1136/jnnp.2010.224501.
<span class="bold">PMID: </span><a href="/pubmed/21047878" target="_blank">21047878</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19922118">Prognostic factors in ALS: A critical review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiò A,
Logroscino G,
Hardiman O,
Swingler R,
Mitchell D,
Beghi E,
Traynor BG;
Eurals Consortium</span><br />
<span class="medgenPMjournal">Amyotroph Lateral Scler</span>
2009 Oct-Dec;10(5-6):310-23.
doi: 10.3109/17482960802566824.
<span class="bold">PMID: </span><a href="/pubmed/19922118" target="_blank">19922118</a><a href="/pmc/articles/PMC3515205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2010%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 (8)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2677565%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
<li><a href="/gtr/tests?term=C2677565%5bDISCUI%5d&amp;filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
<li><a href="/gtr/tests?term=C2677565%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (36)</a></li>
<li><a href="/gtr/tests?term=C2677565%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2677565%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=612069" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Amyotrophic%20lateral%20sclerosis%20type%2010" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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