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<meta name="keywords" content="C1865981, disease or syndrome, frda2, friedreich ataxia 2, 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="Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have "typical Friedreich ataxia" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have "atypical Friedreich ataxia" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=356134
|
||
ConceptID=C1865981
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Friedreich ataxia 2<span class="h1sub">(FRDA2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356134</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.">C1865981</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>FRDA2</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011175" target="_blank">MONDO:0011175</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601992" target="_blank">601992</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1281" target="_blank">Friedreich Ataxia</a></div><div>Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have "typical Friedreich ataxia" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have "atypical Friedreich ataxia" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1281#friedreich.Summary" target="NBK1281">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Diagnosis" target="NBK1281">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Clinical_Characteristics" target="NBK1281">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Genetically_Related_Allelic_D" target="NBK1281">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Differential_Diagnosis" target="NBK1281">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Management" target="NBK1281">Management</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Genetic_Counseling" target="NBK1281">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Resources" target="NBK1281">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Molecular_Genetics" target="NBK1281">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.Chapter_Notes" target="NBK1281">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1281#friedreich.References" target="NBK1281">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Sanjay I Bidichandani | Martin B Delatycki | Marek Napierala<i>, et. al.</i> <a href="/books/NBK1281" target="NBK1281" title="NCBI Bookshelf: Friedreich Ataxia">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000).
|
||
For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13. <a target="_blank" href="http://www.omim.org/entry/601992">http://www.omim.org/entry/601992</a></div></div>
|
||
</div>
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||
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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>
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||
<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_209712"><div><strong>Hammertoe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209712</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.">C1136179</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209712">Feature record</a> | <a href="/medgen?term=%22Hammertoe%22%5BClinical%20Features%5D%20OR%20209712%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68651"><div><strong>Concentric hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68651</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.">C0238044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68651">Feature record</a> | <a href="/medgen?term=%22Concentric%20hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%2068651%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116727"><div><strong>Abnormality of the cardiovascular system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116727</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.">C0243050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the cardiovascular system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116727">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20cardiovascular%20system%22%5BClinical%20Features%5D%20OR%20116727%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105507"><div><strong>Abnormal EKG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105507</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.">C0522055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal rhythm of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105507">Feature record</a> | <a href="/medgen?term=%22Abnormal%20EKG%22%5BClinical%20Features%5D%20OR%20105507%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854407"><div><strong>Muscular subvalvular aortic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854407</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.">C3887554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854407">Feature record</a> | <a href="/medgen?term=%22Muscular%20subvalvular%20aortic%20stenosis%22%5BClinical%20Features%5D%20OR%20854407%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_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_141714"><div><strong>Incoordination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141714</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.">C0520966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141714">Feature record</a> | <a href="/medgen?term=%22Incoordination%22%5BClinical%20Features%5D%20OR%20141714%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_356648"><div><strong>Reduced tendon reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356648</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.">C1866934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356648">Feature record</a> | <a href="/medgen?term=%22Reduced%20tendon%20reflexes%22%5BClinical%20Features%5D%20OR%20356648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866458"><div><strong>Abnormality of peripheral nerve conduction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866458</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.">C4020690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866458">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20peripheral%20nerve%20conduction%22%5BClinical%20Features%5D%20OR%20866458%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866796"><div><strong>Abnormal medulla oblongata morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866796</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.">C4021148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the medulla oblongata, the lower half of the brainstem.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866796">Feature record</a> | <a href="/medgen?term=%22Abnormal%20medulla%20oblongata%20morphology%22%5BClinical%20Features%5D%20OR%20866796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892809"><div><strong>Abnormal pyramidal tract morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892809</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.">C4021761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892809">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pyramidal%20tract%20morphology%22%5BClinical%20Features%5D%20OR%20892809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868962"><div><strong>Abnormality of the dorsal column of the spinal cord</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868962</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.">C4023376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868962">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20dorsal%20column%20of%20the%20spinal%20cord%22%5BClinical%20Features%5D%20OR%20868962%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871173"><div><strong>Abnormality of the spinocerebellar tracts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871173</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.">C4025647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871173">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20spinocerebellar%20tracts%22%5BClinical%20Features%5D%20OR%20871173%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_8351"><div><strong>Diabetic ketoacidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8351</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.">C0011880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of diabetic metabolic abnormality with an accumulation of ketone bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8351">Feature record</a> | <a href="/medgen?term=%22Diabetic%20ketoacidosis%22%5BClinical%20Features%5D%20OR%208351%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871167"><div><strong>Decreased pyruvate carboxylase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871167</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.">C4025641</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased rate of pyruvate carboxylase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871167">Feature record</a> | <a href="/medgen?term=%22Decreased%20pyruvate%20carboxylase%20activity%22%5BClinical%20Features%5D%20OR%20871167%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_383965"><div><strong>Mitochondrial malic enzyme reduced</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383965</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.">C1856697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383965">Feature record</a> | <a href="/medgen?term=%22Mitochondrial%20malic%20enzyme%20reduced%22%5BClinical%20Features%5D%20OR%20383965%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial malic enzyme reduced</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_209712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hammertoe</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></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased pyruvate carboxylase activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetic ketoacidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105507" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal EKG</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the cardiovascular system</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Concentric hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular subvalvular aortic stenosis</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></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_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_866796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal medulla oblongata morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pyramidal tract morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of peripheral nerve conduction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the dorsal column of the spinal cord</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the spinocerebellar tracts</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_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_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_141714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Incoordination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced tendon reflexes</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0016719[DISCUI]&test_type=Clinical" ref="ncbi_uid=5276">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5276" target="_blank" href="/omim/229300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1281/" ref="ncbi_uid=5276">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5276" ref="ncbi_uid=5276">V</a></span></span><span class="TLline"><a href="/medgen/5276" ref="tree=GTR&ncbi_uid=5276&link_uid=5276" title="View MedGen record for 'Friedreich ataxia'">Friedreich ataxia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1856689[DISCUI]&test_type=Clinical" ref="ncbi_uid=383962">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383962" target="_blank" href="/omim/229300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK1281)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=383962">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383962" ref="ncbi_uid=383962">V</a></span></span><span class="TLline"><a href="/medgen/383962" ref="tree=GTR&ncbi_uid=383962&link_uid=383962" title="View MedGen record for 'Friedreich ataxia 1'">Friedreich ataxia 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865981[DISCUI]&test_type=Clinical" ref="ncbi_uid=356134">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356134" target="_blank" href="/omim/601992">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1281/" ref="ncbi_uid=356134">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Friedreich ataxia 2</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/868939" ref="tree=MeSH" title="MedGen record for Abnormality of coordination">Abnormality of coordination</a></span><ul><li><span class="TLline"><a href="/medgen/849" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia">Cerebellar ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/13945" ref="tree=MeSH" title="MedGen record for Dyssynergia">Dyssynergia</a></span><ul><li><span class="TLline"><a href="/medgen/78726" ref="tree=MeSH" title="MedGen record for Hereditary cerebellar ataxia">Hereditary cerebellar ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/5276" ref="tree=MeSH" title="MedGen record for Friedreich ataxia">Friedreich ataxia</a></span><ul><li><span class="matched_ds">Friedreich ataxia 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36708320">Omaveloxolone: an activator of Nrf2 for the treatment of Friedreich ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Profeta V,
|
||
McIntyre K,
|
||
Wells M,
|
||
Park C,
|
||
Lynch DR</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Investig Drugs</span>
|
||
2023 Jan;32(1):5-16.
|
||
Epub 2023 Feb 8
|
||
doi: 10.1080/13543784.2023.2173063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36708320" target="_blank">36708320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35500790">2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groh WJ,
|
||
Bhakta D,
|
||
Tomaselli GF,
|
||
Aleong RG,
|
||
Teixeira RA,
|
||
Amato A,
|
||
Asirvatham SJ,
|
||
Cha YM,
|
||
Corrado D,
|
||
Duboc D,
|
||
Goldberger ZD,
|
||
Horie M,
|
||
Hornyak JE,
|
||
Jefferies JL,
|
||
Kääb S,
|
||
Kalman JM,
|
||
Kertesz NJ,
|
||
Lakdawala NK,
|
||
Lambiase PD,
|
||
Lubitz SA,
|
||
McMillan HJ,
|
||
McNally EM,
|
||
Milone M,
|
||
Namboodiri N,
|
||
Nazarian S,
|
||
Patton KK,
|
||
Russo V,
|
||
Sacher F,
|
||
Santangeli P,
|
||
Shen WK,
|
||
Sobral Filho DC,
|
||
Stambler BS,
|
||
Stöllberger C,
|
||
Wahbi K,
|
||
Wehrens XHT,
|
||
Weiner MM,
|
||
Wheeler MT,
|
||
Zeppenfeld K</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2022 Oct;19(10):e61-e120.
|
||
Epub 2022 Apr 29
|
||
doi: 10.1016/j.hrthm.2022.04.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35500790" target="_blank">35500790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33460030">Efficacy of echocardiography for differential diagnosis of left ventricular hypertrophy: special focus on speckle-tracking longitudinal strain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka H</span><br />
|
||
<span class="medgenPMjournal">J Echocardiogr</span>
|
||
2021 Jun;19(2):71-79.
|
||
Epub 2021 Jan 18
|
||
doi: 10.1007/s12574-020-00508-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33460030" target="_blank">33460030</a><a href="/pmc/articles/PMC8154763" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(friedreich%20ataxia%202)%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 (38)</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/36444905">Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DR,
|
||
Chin MP,
|
||
Boesch S,
|
||
Delatycki MB,
|
||
Giunti P,
|
||
Goldsberry A,
|
||
Hoyle JC,
|
||
Mariotti C,
|
||
Mathews KD,
|
||
Nachbauer W,
|
||
O'Grady M,
|
||
Perlman S,
|
||
Subramony SH,
|
||
Wilmot G,
|
||
Zesiewicz T,
|
||
Meyer CJ</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Feb;38(2):313-320.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1002/mds.29286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36444905" target="_blank">36444905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33068037">Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DR,
|
||
Chin MP,
|
||
Delatycki MB,
|
||
Subramony SH,
|
||
Corti M,
|
||
Hoyle JC,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Mariotti C,
|
||
Mathews KD,
|
||
Giunti P,
|
||
Wilmot G,
|
||
Zesiewicz T,
|
||
Perlman S,
|
||
Goldsberry A,
|
||
O'Grady M,
|
||
Meyer CJ</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2021 Feb;89(2):212-225.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1002/ana.25934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33068037" target="_blank">33068037</a><a href="/pmc/articles/PMC7894504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32369911">Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">La Rosa P,
|
||
Petrillo S,
|
||
Bertini ES,
|
||
Piemonte F</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2020 May 1;10(5)
|
||
doi: 10.3390/biom10050702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32369911" target="_blank">32369911</a><a href="/pmc/articles/PMC7277112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28987184">Trinucleotide repeat disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Den Dunnen WFA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2017;145:383-391.
|
||
doi: 10.1016/B978-0-12-802395-2.00027-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28987184" target="_blank">28987184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
||
Melo C,
|
||
Silva MC,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2014;42(3):174-83.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1159/000358801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Friedreich%20ataxia%202%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 (300)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38057072">Apixaban for Prevention of Thromboembolism in Pediatric Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Payne RM,
|
||
Burns KM,
|
||
Glatz AC,
|
||
Male C,
|
||
Donti A,
|
||
Brandão LR,
|
||
Balling G,
|
||
VanderPluym CJ,
|
||
Bu'Lock F,
|
||
Kochilas LK,
|
||
Stiller B,
|
||
Cnota JF 2nd,
|
||
Rahkonen O,
|
||
Khan A,
|
||
Adorisio R,
|
||
Stoica S,
|
||
May L,
|
||
Burns JC,
|
||
Saraiva JFK,
|
||
McHugh KE,
|
||
Kim JS,
|
||
Rubio A,
|
||
Chía-Vazquez NG,
|
||
Meador MR,
|
||
Dyme JL,
|
||
Reedy AM,
|
||
Ajavon-Hartmann T,
|
||
Jarugula P,
|
||
Carlson-Taneja LE,
|
||
Mills D,
|
||
Wheaton O,
|
||
Monagle P</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Dec 12;82(24):2296-2309.
|
||
doi: 10.1016/j.jacc.2023.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38057072" target="_blank">38057072</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35766110">Friedreich ataxia: clinical features and new developments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keita M,
|
||
McIntyre K,
|
||
Rodden LN,
|
||
Schadt K,
|
||
Lynch DR</span><br />
|
||
<span class="medgenPMjournal">Neurodegener Dis Manag</span>
|
||
2022 Oct;12(5):267-283.
|
||
Epub 2022 Jun 29
|
||
doi: 10.2217/nmt-2022-0011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35766110" target="_blank">35766110</a><a href="/pmc/articles/PMC9517959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29525649">Genetic Infiltrative Cardiomyopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sweet ME,
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<div class="portlet_content ln"><span class="medgenPMauthor">Bodensteiner JB</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DR,
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Chin MP,
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Boesch S,
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Delatycki MB,
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Giunti P,
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Goldsberry A,
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Hoyle JC,
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Mariotti C,
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Mathews KD,
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Nachbauer W,
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O'Grady M,
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Perlman S,
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<div class="nl"><a target="_blank" href="/pubmed/32909841">Emerging therapies in Friedreich's Ataxia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zesiewicz TA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Friedreich%20ataxia%202%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 (155)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36444905">Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DR,
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Chin MP,
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Boesch S,
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Delatycki MB,
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Giunti P,
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Hoyle JC,
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Mariotti C,
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<div class="nl"><a target="_blank" href="/pubmed/35766110">Friedreich ataxia: clinical features and new developments.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Keita M,
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McIntyre K,
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Rodden LN,
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Schadt K,
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Lynch DR</span><br />
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Epub 2022 Jun 29
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<span class="bold">PMID: </span><a href="/pubmed/35766110" target="_blank">35766110</a><a href="/pmc/articles/PMC9517959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33460030">Efficacy of echocardiography for differential diagnosis of left ventricular hypertrophy: special focus on speckle-tracking longitudinal strain.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka H</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/7104875">Scoliosis in Friedreich's ataxia.</a></div>
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Dansereau J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Friedreich%20ataxia%202%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 (130)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38256091">Aging, Neurodegenerative Disorders, and Cerebellum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iskusnykh IY,
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<div class="nl"><a target="_blank" href="/pubmed/36444905">Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DR,
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Chin MP,
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Boesch S,
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Delatycki MB,
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Giunti P,
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Goldsberry A,
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Hoyle JC,
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Mariotti C,
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Mathews KD,
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Nachbauer W,
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O'Grady M,
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Perlman S,
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Subramony SH,
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Wilmot G,
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Zesiewicz T,
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Meyer CJ</span><br />
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<span class="medgenPMjournal">Mov Disord</span>
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2023 Feb;38(2):313-320.
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Epub 2022 Nov 29
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doi: 10.1002/mds.29286.
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<span class="bold">PMID: </span><a href="/pubmed/36444905" target="_blank">36444905</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33068037">Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lynch DR,
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Chin MP,
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Delatycki MB,
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Subramony SH,
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Corti M,
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Hoyle JC,
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Boesch S,
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Nachbauer W,
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Mariotti C,
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Mathews KD,
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Giunti P,
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Wilmot G,
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Zesiewicz T,
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Perlman S,
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O'Grady M,
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<div class="nl"><a target="_blank" href="/pubmed/30656180">Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.</a></div>
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Farmer J,
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Blair IA,
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Snyder N,
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Boesch S,
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Chin M,
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Delatycki MB,
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Giunti P,
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Goldsberry A,
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Hoyle C,
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McBride MG,
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Nachbauer W,
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O'Grady M,
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Perlman S,
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Subramony SH,
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Wilmot GR,
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Zesiewicz T,
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<div class="nl"><a target="_blank" href="/pubmed/28987184">Trinucleotide repeat disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Den Dunnen WFA</span><br />
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Friedreich%20ataxia%202%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 (296)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37889470">Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gavriilaki M,
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Chatzikyriakou E,
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Moschou M,
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Arnaoutoglou M,
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Sakellari I,
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Kimiskidis VK</span><br />
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<span class="medgenPMjournal">Cerebellum</span>
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2024 Jun;23(3):1184-1203.
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Epub 2023 Oct 27
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<span class="bold">PMID: </span><a href="/pubmed/37889470" target="_blank">37889470</a><a href="/pmc/articles/PMC11102393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35983717">A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich's Ataxia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Buesch K,
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Zhang R</span><br />
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<span class="medgenPMjournal">Curr Med Res Opin</span>
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2022 Oct;38(10):1739-1749.
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Epub 2022 Aug 23
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<span class="bold">PMID: </span><a href="/pubmed/35983717" target="_blank">35983717</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29440566">Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zesiewicz TA,
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Wilmot G,
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Kuo SH,
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Perlman S,
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Greenstein PE,
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Ying SH,
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Ashizawa T,
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Subramony SH,
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Schmahmann JD,
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Figueroa KP,
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Mizusawa H,
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Schöls L,
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Shaw JD,
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Dubinsky RM,
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Armstrong MJ,
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<span class="medgenPMjournal">Neurology</span>
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<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
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Melo C,
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<div class="nl"><a target="_blank" href="/pubmed/22513953">Antioxidants and other pharmacological treatments for Friedreich ataxia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kearney M,
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Orrell RW,
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|
||
<span class="bold">PMID: </span><a href="/pubmed/22513953" target="_blank">22513953</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Friedreich%20ataxia%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1865981%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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