Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies
Identifieur interne : 004188 ( Istex/Checkpoint ); précédent : 004187; suivant : 004189Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies
Auteurs : Sudarsky [États-Unis] ; Lee Corwin [États-Unis] ; David M. Dawson [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 1992.
English descriptors
Abstract
Experience is described in 25 patients from southern New England with Machado‐Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.
Url:
DOI: 10.1002/mds.870070303
Affiliations:
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<author><name sortKey="Corwin, Lee" sort="Corwin, Lee" uniqKey="Corwin L" first="Lee" last="Corwin">Lee Corwin</name>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
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<front><div type="abstract" xml:lang="en">Experience is described in 25 patients from southern New England with Machado‐Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.</div>
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