X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

Detalhes bibliográficos
Autor(a) principal: Kouyoumdjian,João Aris
Data de Publicação: 2005
Outros Autores: Morita,Maria da Penha Ananias, Araújo,Rogério Gayer Machado de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000100028
Resumo: X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.
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spelling X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case reportX-linked spinal and bulbar muscular atrophyKennedy's diseasebulbospinal neuronopathymotor neuron diseaseamyotrophic lateral sclerosissensory neuropathyX-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.Academia Brasileira de Neurologia - ABNEURO2005-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000100028Arquivos de Neuro-Psiquiatria v.63 n.1 2005reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2005000100028info:eu-repo/semantics/openAccessKouyoumdjian,João ArisMorita,Maria da Penha AnaniasAraújo,Rogério Gayer Machado deeng2005-04-13T00:00:00Zoai:scielo:S0004-282X2005000100028Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2005-04-13T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
title X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
spellingShingle X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
Kouyoumdjian,João Aris
X-linked spinal and bulbar muscular atrophy
Kennedy's disease
bulbospinal neuronopathy
motor neuron disease
amyotrophic lateral sclerosis
sensory neuropathy
title_short X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
title_full X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
title_fullStr X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
title_full_unstemmed X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
title_sort X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report
author Kouyoumdjian,João Aris
author_facet Kouyoumdjian,João Aris
Morita,Maria da Penha Ananias
Araújo,Rogério Gayer Machado de
author_role author
author2 Morita,Maria da Penha Ananias
Araújo,Rogério Gayer Machado de
author2_role author
author
dc.contributor.author.fl_str_mv Kouyoumdjian,João Aris
Morita,Maria da Penha Ananias
Araújo,Rogério Gayer Machado de
dc.subject.por.fl_str_mv X-linked spinal and bulbar muscular atrophy
Kennedy's disease
bulbospinal neuronopathy
motor neuron disease
amyotrophic lateral sclerosis
sensory neuropathy
topic X-linked spinal and bulbar muscular atrophy
Kennedy's disease
bulbospinal neuronopathy
motor neuron disease
amyotrophic lateral sclerosis
sensory neuropathy
description X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.
publishDate 2005
dc.date.none.fl_str_mv 2005-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000100028
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dc.language.iso.fl_str_mv eng
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dc.relation.none.fl_str_mv 10.1590/S0004-282X2005000100028
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.63 n.1 2005
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
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institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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