Movement disorders in adult surviving patients with maple syrup urine disease
Identifieur interne : 002057 ( Istex/Corpus ); précédent : 002056; suivant : 002058Movement disorders in adult surviving patients with maple syrup urine disease
Auteurs : Miryam Carecchio ; Susanne A. Schneider ; Heidi Chan ; Robin Lachmann ; Philip J. Lee ; Elaine Murphy ; Kailash P. BhatiaSource :
- Movement Disorders [ 0885-3185 ] ; 2011-06.
English descriptors
Abstract
Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23629
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<front><div type="abstract" xml:lang="en">Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</div>
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<creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Susanne A.</givenNames>
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<creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Robin</givenNames>
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<creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Philip J.</givenNames>
<familyName>Lee</familyName>
<degrees>MD, FRCP</degrees>
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<familyName>Murphy</familyName>
<degrees>MRCP, FRCPath</degrees>
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<creator xml:id="au7" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Kailash P.</givenNames>
<familyName>Bhatia</familyName>
<degrees>MD, FRCP</degrees>
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<affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</unparsedAffiliation>
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<affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</unparsedAffiliation>
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<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">maple syrup urine disease</keyword>
<keyword xml:id="kwd2">metabolic</keyword>
<keyword xml:id="kwd3">movement disorders</keyword>
<keyword xml:id="kwd4">dystonia</keyword>
<keyword xml:id="kwd5">parkinsonism</keyword>
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<p>Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</p>
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<noteGroup><note xml:id="fn2"><p><b>Funding agencies:</b>
This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme. <b>Relevant conflicts of interest/financial disclosures:</b>
Nothing to report.</p>
<p>Full financial disclosures and author roles may be found in the online version of this article.</p>
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<titleInfo type="abbreviated" lang="en"><title>Movement Disorders in Adult MSUD Patients</title>
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<name type="personal"><namePart type="given">Miryam</namePart>
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<affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation>
<affiliation>Department of Neurology, Amedeo Avogadro University, Novara, Italy</affiliation>
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<name type="personal"><namePart type="given">Elaine</namePart>
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<name type="personal"><namePart type="given">Kailash P.</namePart>
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<affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation>
<description>Correspondence: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</description>
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<abstract lang="en">Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</abstract>
<note type="additional physical form">Supplemental video</note>
<note type="content">*Funding agencies: This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme. Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles may be found in the online version of this article.</note>
<subject lang="en"><genre>Keywords</genre>
<topic>maple syrup urine disease</topic>
<topic>metabolic</topic>
<topic>movement disorders</topic>
<topic>dystonia</topic>
<topic>parkinsonism</topic>
</subject>
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<titleInfo type="abbreviated"><title>Mov. Disord.</title>
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<topic>Research Article</topic>
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<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2011</date>
<detail type="volume"><caption>vol.</caption>
<number>26</number>
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<detail type="issue"><caption>no.</caption>
<number>7</number>
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<extent unit="pages"><start>1324</start>
<end>1328</end>
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