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<meta name="keywords" content="C5830359, als27, amyotrophic lateral sclerosis 27, juvenile, disease or syndrome, sptlc1, 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="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)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1840995
|
||
ConceptID=C5830359
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Amyotrophic lateral sclerosis 27, juvenile<span class="h1sub">(ALS27)</span></div></h1><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."><span class="highlight" style="background-color:">C5830359</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>ALS27</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="SPTLC1 - ID: 10558 - NCBI Gene" href="/gene/10558" class="medgenPMinfo">SPTLC1</a> (9q22.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859529" target="_blank">MONDO:0859529</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620285" target="_blank">620285</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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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_66822"><div><strong>Scapular winging</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66822</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.">C0240953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal protrusion of the scapula away from the surface of the back.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66822">Feature record</a> | <a href="/medgen?term=%22Scapular%20winging%22%5BClinical%20Features%5D%20OR%2066822%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</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.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324478"><div><strong>Lower limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324478</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.">C1836296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles of the legs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324478">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324478%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98104"><div><strong>Tip-toe gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98104</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.">C0427144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98104">Feature record</a> | <a href="/medgen?term=%22Tip-toe%20gait%22%5BClinical%20Features%5D%20OR%2098104%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98105"><div><strong>Steppage gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98105</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.">C0427149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98105">Feature record</a> | <a href="/medgen?term=%22Steppage%20gait%22%5BClinical%20Features%5D%20OR%2098105%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220865"><div><strong>Lower limb spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220865</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.">C1271100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220865">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20spasticity%22%5BClinical%20Features%5D%20OR%20220865%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332305"><div><strong>Loss of ambulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332305</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.">C1836843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to walk in a person who previous had the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332305">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20ambulation%22%5BClinical%20Features%5D%20OR%20332305%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765822"><div><strong>Jaw hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765822</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.">C3552908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased intensity of muscle tendon reflexes in jaw.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765822">Feature record</a> | <a href="/medgen?term=%22Jaw%20hyperreflexia%22%5BClinical%20Features%5D%20OR%20765822%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1617231"><div><strong>Impaired executive functioning</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617231</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.">C4544271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1617231">Feature record</a> | <a href="/medgen?term=%22Impaired%20executive%20functioning%22%5BClinical%20Features%5D%20OR%201617231%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9805"><div><strong>Hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9805</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.">C0024003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9805">Feature record</a> | <a href="/medgen?term=%22Hyperlordosis%22%5BClinical%20Features%5D%20OR%209805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65865"><div><strong>Gowers sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65865</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.">C0234182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65865">Feature record</a> | <a href="/medgen?term=%22Gowers%20sign%22%5BClinical%20Features%5D%20OR%2065865%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68704"><div><strong>Progressive muscle weakness</strong><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></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68704">Feature record</a> | <a href="/medgen?term=%22Progressive%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%2068704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155433"><div><strong>Generalized muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155433</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.">C0746674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155433">Feature record</a> | <a href="/medgen?term=%22Generalized%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20155433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_234650"><div><strong>Generalized amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234650</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.">C1389113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234650">Feature record</a> | <a href="/medgen?term=%22Generalized%20amyotrophy%22%5BClinical%20Features%5D%20OR%20234650%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351202"><div><strong>Intrinsic hand muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351202</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.">C1864716</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351202">Feature record</a> | <a href="/medgen?term=%22Intrinsic%20hand%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20351202%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478824"><div><strong>Fiber type grouping</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478824</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.">C3277194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478824">Feature record</a> | <a href="/medgen?term=%22Fiber%20type%20grouping%22%5BClinical%20Features%5D%20OR%20478824%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870170"><div><strong>Quadriceps muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870170</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.">C4024603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy involving the quadriceps muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870170">Feature record</a> | <a href="/medgen?term=%22Quadriceps%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20870170%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1699728"><div><strong>Angulated muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1699728</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.">C5233187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1699728">Feature record</a> | <a href="/medgen?term=%22Angulated%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%201699728%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</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.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65987"><div><strong>Tongue fasciculations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65987</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.">C0239548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fasciculations or fibrillation affecting the tongue muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65987">Feature record</a> | <a href="/medgen?term=%22Tongue%20fasciculations%22%5BClinical%20Features%5D%20OR%2065987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66828"><div><strong>Tongue atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66828</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.">C0241423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wasting of the tongue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66828">Feature record</a> | <a href="/medgen?term=%22Tongue%20atrophy%22%5BClinical%20Features%5D%20OR%2066828%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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tongue atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tongue fasciculations</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapular winging</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_1699728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angulated muscle fibers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fiber type grouping</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gowers sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlordosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrinsic hand muscle atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Quadriceps muscle atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1617231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired executive functioning</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_765822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaw hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of ambulation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steppage gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tip-toe gait</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_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</a></span></li></ul></li></ul></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/36296656">Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi Sebastiano M,
|
||
Ermondi G,
|
||
Sato K,
|
||
Otomo A,
|
||
Hadano S,
|
||
Caron G</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2022 Oct 19;27(20)
|
||
doi: 10.3390/molecules27207063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36296656" target="_blank">36296656</a><a href="/pmc/articles/PMC9609931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36108486">Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kacem I,
|
||
Sghaier I,
|
||
Peverelli S,
|
||
Souissi E,
|
||
Ticozzi N,
|
||
Gharbi A,
|
||
Ratti A,
|
||
Berrechid AG,
|
||
Silani V,
|
||
Gouider R</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2022 Dec;120:27-33.
|
||
Epub 2022 Aug 14
|
||
doi: 10.1016/j.neurobiolaging.2022.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36108486" target="_blank">36108486</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyotrophic%20lateral%20sclerosis%2027%2C%20juvenile)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26362943">De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hübers A,
|
||
Just W,
|
||
Rosenbohm A,
|
||
Müller K,
|
||
Marroquin N,
|
||
Goebel I,
|
||
Högel J,
|
||
Thiele H,
|
||
Altmüller J,
|
||
Nürnberg P,
|
||
Weishaupt JH,
|
||
Kubisch C,
|
||
Ludolph AC,
|
||
Volk AE</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2015 Nov;36(11):3117.e1-3117.e6.
|
||
Epub 2015 Aug 15
|
||
doi: 10.1016/j.neurobiolaging.2015.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26362943" target="_blank">26362943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11105062">Motor neuron diseases in the university hospital of Fortaleza (Northeastern Brazil): a clinico-demographic analysis of 87 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro-Costa CM,
|
||
Oriá RB,
|
||
Vale OC,
|
||
Arruda JA,
|
||
Horta WG,
|
||
D'Almeida JA,
|
||
Santos TJ,
|
||
Ramos RS,
|
||
Gifoni MA</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2000 Dec;58(4):986-9.
|
||
doi: 10.1590/s0004-282x2000000600002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11105062" target="_blank">11105062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8773148">Neuronal targets of serum and cerebrospinal fluid autoantibodies in amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greiner A,
|
||
Schmausser B,
|
||
Petzold K,
|
||
Krüger H,
|
||
Marx A</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
1996;91(1):67-71.
|
||
doi: 10.1007/s004010050393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8773148" target="_blank">8773148</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%2027%2C%20juvenile%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36296656">Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi Sebastiano M,
|
||
Ermondi G,
|
||
Sato K,
|
||
Otomo A,
|
||
Hadano S,
|
||
Caron G</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2022 Oct 19;27(20)
|
||
doi: 10.3390/molecules27207063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36296656" target="_blank">36296656</a><a href="/pmc/articles/PMC9609931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30992063">Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spataro R,
|
||
Kousi M,
|
||
Farhan SMK,
|
||
Willer JR,
|
||
Ross JP,
|
||
Dion PA,
|
||
Rouleau GA,
|
||
Daly MJ,
|
||
Neale BM,
|
||
La Bella V,
|
||
Katsanis N</span><br />
|
||
<span class="medgenPMjournal">Hum Genomics</span>
|
||
2019 Apr 16;13(1):19.
|
||
doi: 10.1186/s40246-019-0203-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30992063" target="_blank">30992063</a><a href="/pmc/articles/PMC6469102" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11105062">Motor neuron diseases in the university hospital of Fortaleza (Northeastern Brazil): a clinico-demographic analysis of 87 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro-Costa CM,
|
||
Oriá RB,
|
||
Vale OC,
|
||
Arruda JA,
|
||
Horta WG,
|
||
D'Almeida JA,
|
||
Santos TJ,
|
||
Ramos RS,
|
||
Gifoni MA</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2000 Dec;58(4):986-9.
|
||
doi: 10.1590/s0004-282x2000000600002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11105062" target="_blank">11105062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9652786">Juvenile familial amyotrophic lateral sclerosis: four cases with long survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otero Siliceo E,
|
||
Arriada-Mendicoa N,
|
||
Balderrama J</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1998 Jun;40(6):425-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9652786" target="_blank">9652786</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%2027%2C%20juvenile%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33637330">The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanteri P,
|
||
Meola I,
|
||
Canosa A,
|
||
De Marco G,
|
||
Lomartire A,
|
||
Rinaudo MT,
|
||
Albamonte E,
|
||
Sansone VA,
|
||
Lunetta C,
|
||
Manera U,
|
||
Vasta R,
|
||
Moglia C,
|
||
Calvo A,
|
||
Origone P,
|
||
Chiò A,
|
||
Mandich P</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2021 Jul;103:130.e1-130.e7.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1016/j.neurobiolaging.2021.01.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33637330" target="_blank">33637330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26362943">De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hübers A,
|
||
Just W,
|
||
Rosenbohm A,
|
||
Müller K,
|
||
Marroquin N,
|
||
Goebel I,
|
||
Högel J,
|
||
Thiele H,
|
||
Altmüller J,
|
||
Nürnberg P,
|
||
Weishaupt JH,
|
||
Kubisch C,
|
||
Ludolph AC,
|
||
Volk AE</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2015 Nov;36(11):3117.e1-3117.e6.
|
||
Epub 2015 Aug 15
|
||
doi: 10.1016/j.neurobiolaging.2015.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26362943" target="_blank">26362943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16122634">Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dipti S,
|
||
Childs AM,
|
||
Livingston JH,
|
||
Aggarwal AK,
|
||
Miller M,
|
||
Williams C,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2005 Sep;27(6):443-6.
|
||
Epub 2004 Dec 15
|
||
doi: 10.1016/j.braindev.2004.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16122634" target="_blank">16122634</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%2027%2C%20juvenile%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33637330">The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanteri P,
|
||
Meola I,
|
||
Canosa A,
|
||
De Marco G,
|
||
Lomartire A,
|
||
Rinaudo MT,
|
||
Albamonte E,
|
||
Sansone VA,
|
||
Lunetta C,
|
||
Manera U,
|
||
Vasta R,
|
||
Moglia C,
|
||
Calvo A,
|
||
Origone P,
|
||
Chiò A,
|
||
Mandich P</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2021 Jul;103:130.e1-130.e7.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1016/j.neurobiolaging.2021.01.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33637330" target="_blank">33637330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16122634">Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dipti S,
|
||
Childs AM,
|
||
Livingston JH,
|
||
Aggarwal AK,
|
||
Miller M,
|
||
Williams C,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2005 Sep;27(6):443-6.
|
||
Epub 2004 Dec 15
|
||
doi: 10.1016/j.braindev.2004.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16122634" target="_blank">16122634</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%2027%2C%20juvenile%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5830359%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
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<li><a href="/gtr/tests?term=C5830359%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
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<li><a href="/gtr/tests?term=C5830359%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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