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<meta name="keywords" content="C5882701, disease or syndrome, spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, spg91, sptan1, 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="Autosomal dominant spastic paraplegia-91 with or without cerebellar ataxia (SPG91) is a highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. The age at onset is highly variable (congenital to young adult), although most patients have symptom onset in the first decade. Some patients present with a spastic paraplegia-predominant phenotype with significant pyramidal signs, whereas others present with an ataxic-predominant phenotype. In addition, although most patients have a more 'pure' phenotype restricted to gait abnormalities without additional features, others have a more 'complicated' phenotype with additional features such as sensory abnormalities, peripheral neuropathy, optic neuropathy, developmental delay, variably impaired intellectual development, and seizures. Many have normal brain imaging, but cerebellar atrophy may be observed in those with prominent cerebellar ataxia (Van de Vondel et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1846222
|
||
ConceptID=C5882701
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia<span class="h1sub">(SPG91)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846222</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:">C5882701</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>SPG91</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="SPTAN1 - ID: 6709 - NCBI Gene" href="/gene/6709" class="medgenPMinfo">SPTAN1</a> (9q34.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957813" target="_blank">MONDO:0957813</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620538" target="_blank">620538</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">Autosomal dominant spastic paraplegia-91 with or without cerebellar ataxia (SPG91) is a highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. The age at onset is highly variable (congenital to young adult), although most patients have symptom onset in the first decade. Some patients present with a spastic paraplegia-predominant phenotype with significant pyramidal signs, whereas others present with an ataxic-predominant phenotype. In addition, although most patients have a more 'pure' phenotype restricted to gait abnormalities without additional features, others have a more 'complicated' phenotype with additional features such as sensory abnormalities, peripheral neuropathy, optic neuropathy, developmental delay, variably impaired intellectual development, and seizures. Many have normal brain imaging, but cerebellar atrophy may be observed in those with prominent cerebellar ataxia (Van de Vondel et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_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_305607"><div><strong>Upper limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>305607</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.">C1698196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles of the arms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/305607">Feature record</a> | <a href="/medgen?term=%22Upper%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20305607%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_324514"><div><strong>Distal lower limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324514</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.">C1836450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the distal musculature of the legs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324514">Feature record</a> | <a href="/medgen?term=%22Distal%20lower%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%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) 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_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%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) 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_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20882"><div><strong>Spastic paraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20882</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.">C0037772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity and weakness of the leg and hip muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20882">Feature record</a> | <a href="/medgen?term=%22Spastic%20paraplegia%22%5BClinical%20Features%5D%20OR%2020882%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115907"><div><strong>Spastic gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115907</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.">C0231687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115907">Feature record</a> | <a href="/medgen?term=%22Spastic%20gait%22%5BClinical%20Features%5D%20OR%20115907%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68582"><div><strong>Abnormal pyramidal sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68582</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.">C0234132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Functional neurological abnormalities related to dysfunction of the pyramidal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68582">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pyramidal%20sign%22%5BClinical%20Features%5D%20OR%2068582%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_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_156242"><div><strong>Paroxysmal dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>156242</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.">C0752210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/156242">Feature record</a> | <a href="/medgen?term=%22Paroxysmal%20dyskinesia%22%5BClinical%20Features%5D%20OR%20156242%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266071"><div><strong>Peripheral axonal neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266071</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.">C1263857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality characterized by disruption of the normal functioning of peripheral axons.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266071">Feature record</a> | <a href="/medgen?term=%22Peripheral%20axonal%20neuropathy%22%5BClinical%20Features%5D%20OR%20266071%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220959"><div><strong>Impaired vibratory sensation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220959</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.">C1295585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220959">Feature record</a> | <a href="/medgen?term=%22Impaired%20vibratory%20sensation%22%5BClinical%20Features%5D%20OR%20220959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%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_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) 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_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356423"><div><strong>Proximal muscle weakness in lower limbs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356423</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.">C1866010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of strength of the proximal muscles of the legs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356423">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%20in%20lower%20limbs%22%5BClinical%20Features%5D%20OR%20356423%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854546"><div><strong>Optic neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854546</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.">C3887709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorder of the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854546">Feature record</a> | <a href="/medgen?term=%22Optic%20neuropathy%22%5BClinical%20Features%5D%20OR%20854546%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal lower limb muscle weakness</a></span></li><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_305607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upper limb muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic neuropathy</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_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness in lower limbs</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_68582" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pyramidal sign</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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</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_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</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_220959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired vibratory sensation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_156242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paroxysmal dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral axonal neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia</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/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30970132">Acute cerebellar ataxia: differential diagnosis and clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedroso JL,
|
||
Vale TC,
|
||
Braga-Neto P,
|
||
Dutra LA,
|
||
França MC Jr,
|
||
Teive HAG,
|
||
Barsottini OGP</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2019 Mar;77(3):184-193.
|
||
doi: 10.1590/0004-282X20190020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30970132" target="_blank">30970132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26900156">The Differential Diagnosis and Treatment of Atypical Parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levin J,
|
||
Kurz A,
|
||
Arzberger T,
|
||
Giese A,
|
||
Höglinger GU</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2016 Feb 5;113(5):61-9.
|
||
doi: 10.3238/arztebl.2016.0061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26900156" target="_blank">26900156</a><a href="/pmc/articles/PMC4782269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spastic%20paraplegia%2091%2C%20autosomal%20dominant%2C%20with%20or%20without%20cerebellar%20ataxia)%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 (373)</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/30970132">Acute cerebellar ataxia: differential diagnosis and clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedroso JL,
|
||
Vale TC,
|
||
Braga-Neto P,
|
||
Dutra LA,
|
||
França MC Jr,
|
||
Teive HAG,
|
||
Barsottini OGP</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2019 Mar;77(3):184-193.
|
||
doi: 10.1590/0004-282X20190020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30970132" target="_blank">30970132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30340048">SnapShot: Biology of Genetic Ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eidhof I,
|
||
van de Warrenburg BP,
|
||
Schenck A</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2018 Oct 18;175(3):890-890.e1.
|
||
doi: 10.1016/j.cell.2018.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30340048" target="_blank">30340048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25391707">Drug-induced cerebellar ataxia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Gaalen J,
|
||
Kerstens FG,
|
||
Maas RP,
|
||
Härmark L,
|
||
van de Warrenburg BP</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2014 Dec;28(12):1139-53.
|
||
doi: 10.1007/s40263-014-0200-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25391707" target="_blank">25391707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22140200">Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyai I,
|
||
Ito M,
|
||
Hattori N,
|
||
Mihara M,
|
||
Hatakenaka M,
|
||
Yagura H,
|
||
Sobue G,
|
||
Nishizawa M;
|
||
Cerebellar Ataxia Rehabilitation Trialists Collaboration</span><br />
|
||
<span class="medgenPMjournal">Neurorehabil Neural Repair</span>
|
||
2012 Jun;26(5):515-22.
|
||
Epub 2011 Dec 2
|
||
doi: 10.1177/1545968311425918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22140200" target="_blank">22140200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21321055">Cerebellar ataxia: pathophysiology and rehabilitation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marsden J,
|
||
Harris C</span><br />
|
||
<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2011 Mar;25(3):195-216.
|
||
doi: 10.1177/0269215510382495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21321055" target="_blank">21321055</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20paraplegia%2091%2C%20autosomal%20dominant%2C%20with%20or%20without%20cerebellar%20ataxia%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 (3865)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36400556">Evaluation of Cerebellar Ataxic Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radmard S,
|
||
Zesiewicz TA,
|
||
Kuo SH</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2023 Feb;41(1):21-44.
|
||
Epub 2022 Aug 31
|
||
doi: 10.1016/j.ncl.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36400556" target="_blank">36400556</a><a href="/pmc/articles/PMC10354692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36152050">The inherited cerebellar ataxias: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coarelli G,
|
||
Wirth T,
|
||
Tranchant C,
|
||
Koenig M,
|
||
Durr A,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Jan;270(1):208-222.
|
||
Epub 2022 Sep 24
|
||
doi: 10.1007/s00415-022-11383-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36152050" target="_blank">36152050</a><a href="/pmc/articles/PMC9510384" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36222772">Neurodegenerative Cerebellar Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenthal LS</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Oct 1;28(5):1409-1434.
|
||
doi: 10.1212/CON.0000000000001180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36222772" target="_blank">36222772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31356292">Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuo SH</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2019 Aug;25(4):1036-1054.
|
||
doi: 10.1212/CON.0000000000000753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31356292" target="_blank">31356292</a><a href="/pmc/articles/PMC7339377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30970132">Acute cerebellar ataxia: differential diagnosis and clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedroso JL,
|
||
Vale TC,
|
||
Braga-Neto P,
|
||
Dutra LA,
|
||
França MC Jr,
|
||
Teive HAG,
|
||
Barsottini OGP</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2019 Mar;77(3):184-193.
|
||
doi: 10.1590/0004-282X20190020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30970132" target="_blank">30970132</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20paraplegia%2091%2C%20autosomal%20dominant%2C%20with%20or%20without%20cerebellar%20ataxia%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 (5919)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31356292">Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuo SH</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2019 Aug;25(4):1036-1054.
|
||
doi: 10.1212/CON.0000000000000753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31356292" target="_blank">31356292</a><a href="/pmc/articles/PMC7339377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24582474">The assessment and treatment of postural disorders in cerebellar ataxia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marquer A,
|
||
Barbieri G,
|
||
Pérennou D</span><br />
|
||
<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
|
||
2014 Mar;57(2):67-78.
|
||
Epub 2014 Feb 6
|
||
doi: 10.1016/j.rehab.2014.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24582474" target="_blank">24582474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22140200">Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyai I,
|
||
Ito M,
|
||
Hattori N,
|
||
Mihara M,
|
||
Hatakenaka M,
|
||
Yagura H,
|
||
Sobue G,
|
||
Nishizawa M;
|
||
Cerebellar Ataxia Rehabilitation Trialists Collaboration</span><br />
|
||
<span class="medgenPMjournal">Neurorehabil Neural Repair</span>
|
||
2012 Jun;26(5):515-22.
|
||
Epub 2011 Dec 2
|
||
doi: 10.1177/1545968311425918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22140200" target="_blank">22140200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8722658">The retina.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burdon MA,
|
||
Sanders MD</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1996 Feb;9(1):16-20.
|
||
doi: 10.1097/00019052-199602000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8722658" target="_blank">8722658</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20paraplegia%2091%2C%20autosomal%20dominant%2C%20with%20or%20without%20cerebellar%20ataxia%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 (1824)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36152050">The inherited cerebellar ataxias: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coarelli G,
|
||
Wirth T,
|
||
Tranchant C,
|
||
Koenig M,
|
||
Durr A,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Jan;270(1):208-222.
|
||
Epub 2022 Sep 24
|
||
doi: 10.1007/s00415-022-11383-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36152050" target="_blank">36152050</a><a href="/pmc/articles/PMC9510384" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36222772">Neurodegenerative Cerebellar Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenthal LS</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Oct 1;28(5):1409-1434.
|
||
doi: 10.1212/CON.0000000000001180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36222772" target="_blank">36222772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32456344">Neurological Syndromes Associated with Anti-GAD Antibodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dade M,
|
||
Berzero G,
|
||
Izquierdo C,
|
||
Giry M,
|
||
Benazra M,
|
||
Delattre JY,
|
||
Psimaras D,
|
||
Alentorn A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 May 24;21(10)
|
||
doi: 10.3390/ijms21103701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32456344" target="_blank">32456344</a><a href="/pmc/articles/PMC7279468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31356292">Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuo SH</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2019 Aug;25(4):1036-1054.
|
||
doi: 10.1212/CON.0000000000000753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31356292" target="_blank">31356292</a><a href="/pmc/articles/PMC7339377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30221603">Immune-mediated Cerebellar Ataxias: Practical Guidelines and Therapeutic Challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitoma H,
|
||
Manto M,
|
||
Hampe CS</span><br />
|
||
<span class="medgenPMjournal">Curr Neuropharmacol</span>
|
||
2019;17(1):33-58.
|
||
doi: 10.2174/1570159X16666180917105033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30221603" target="_blank">30221603</a><a href="/pmc/articles/PMC6341499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20paraplegia%2091%2C%20autosomal%20dominant%2C%20with%20or%20without%20cerebellar%20ataxia%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 (2132)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165652">GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilke C,
|
||
Pellerin D,
|
||
Mengel D,
|
||
Traschütz A,
|
||
Danzi MC,
|
||
Dicaire MJ,
|
||
Neumann M,
|
||
Lerche H,
|
||
Bender B,
|
||
Houlden H;
|
||
RFC1 study group,
|
||
Züchner S,
|
||
Schöls L,
|
||
Brais B,
|
||
Synofzik M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Oct 3;146(10):4144-4157.
|
||
doi: 10.1093/brain/awad157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165652" target="_blank">37165652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36152050">The inherited cerebellar ataxias: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coarelli G,
|
||
Wirth T,
|
||
Tranchant C,
|
||
Koenig M,
|
||
Durr A,
|
||
Anheim M</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Jan;270(1):208-222.
|
||
Epub 2022 Sep 24
|
||
doi: 10.1007/s00415-022-11383-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36152050" target="_blank">36152050</a><a href="/pmc/articles/PMC9510384" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33011895">Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dupré M,
|
||
Hermann R,
|
||
Froment Tilikete C</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Oct;20(5):687-700.
|
||
Epub 2020 Oct 4
|
||
doi: 10.1007/s12311-020-01192-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33011895" target="_blank">33011895</a><a href="/pmc/articles/PMC8629873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32456344">Neurological Syndromes Associated with Anti-GAD Antibodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dade M,
|
||
Berzero G,
|
||
Izquierdo C,
|
||
Giry M,
|
||
Benazra M,
|
||
Delattre JY,
|
||
Psimaras D,
|
||
Alentorn A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 May 24;21(10)
|
||
doi: 10.3390/ijms21103701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32456344" target="_blank">32456344</a><a href="/pmc/articles/PMC7279468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32160830">Acute Cerebellitis or Postinfectious Cerebellar Ataxia? Clinical and Imaging Features in Acute Cerebellitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildirim M,
|
||
Gocmen R,
|
||
Konuskan B,
|
||
Parlak S,
|
||
Yalnizoglu D,
|
||
Anlar B</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2020 May;35(6):380-388.
|
||
Epub 2020 Mar 12
|
||
doi: 10.1177/0883073820901407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32160830" target="_blank">32160830</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20paraplegia%2091%2C%20autosomal%20dominant%2C%20with%20or%20without%20cerebellar%20ataxia%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 (3606)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31392562">Exercise and Physical Therapy Interventions for Children with Ataxia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartley H,
|
||
Cassidy E,
|
||
Bunn L,
|
||
Kumar R,
|
||
Pizer B,
|
||
Lane S,
|
||
Carter B</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2019 Oct;18(5):951-968.
|
||
doi: 10.1007/s12311-019-01063-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31392562" target="_blank">31392562</a><a href="/pmc/articles/PMC6761087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29220753">A systematic review of the gait characteristics associated with Cerebellar Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buckley E,
|
||
Mazzà C,
|
||
McNeill A</span><br />
|
||
<span class="medgenPMjournal">Gait Posture</span>
|
||
2018 Feb;60:154-163.
|
||
Epub 2017 Dec 1
|
||
doi: 10.1016/j.gaitpost.2017.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29220753" target="_blank">29220753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25391707">Drug-induced cerebellar ataxia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Gaalen J,
|
||
Kerstens FG,
|
||
Maas RP,
|
||
Härmark L,
|
||
van de Warrenburg BP</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2014 Dec;28(12):1139-53.
|
||
doi: 10.1007/s40263-014-0200-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25391707" target="_blank">25391707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24582474">The assessment and treatment of postural disorders in cerebellar ataxia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marquer A,
|
||
Barbieri G,
|
||
Pérennou D</span><br />
|
||
<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
|
||
2014 Mar;57(2):67-78.
|
||
Epub 2014 Feb 6
|
||
doi: 10.1016/j.rehab.2014.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24582474" target="_blank">24582474</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20paraplegia%2091%2C%20autosomal%20dominant%2C%20with%20or%20without%20cerebellar%20ataxia%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 (115)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5882701%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C5882701%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
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<li><a href="/gtr/tests?term=C5882701%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5882701%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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