MovDisordV3, Main, Exploration, bibRecord, 005F95

Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies

Identifieur interne : 005F95 ( Main/Exploration ); précédent : 005F94; suivant : 005F96

Machado‐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.

RBID : ISTEX:AB45BEC78DDF7D24F880F16D691639D4CED9B1CF

English descriptors

KwdEn :
- Adolescent, Adult, Child, Chromosome Aberrations (genetics), Chromosome Disorders, Female, Genes, Dominant (genetics), Genetics, Population, Humans, Inherited ataxia, Machado‐Joseph disease, Male, Middle Aged, Neurologic Examination, New England, OPCA, Olivopontocerebellar Atrophies (classification), Olivopontocerebellar Atrophies (diagnosis), Olivopontocerebellar Atrophies (genetics), Phenotype, Retrospective Studies, Spinocerebellar Degenerations (classification), Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Spinocerebellar degeneration.
MESH :
- geographic : New England.
- classification : Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- diagnosis : Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- genetics : Chromosome Aberrations, Genes, Dominant, Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- Adolescent, Adult, Child, Chromosome Disorders, Female, Genetics, Population, Humans, Male, Middle Aged, Neurologic Examination, Phenotype, Retrospective Studies.

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:

https://api.istex.fr/document/AB45BEC78DDF7D24F880F16D691639D4CED9B1CF/fulltext/pdf

DOI: 10.1002/mds.870070303

Affiliations:

Le document en format XML

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<term>Genetics, Population</term>
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<term>Inherited ataxia</term>
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<term>Middle Aged</term>
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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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Movement Disorders (revue)

Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies

Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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