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Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies
Author(s) -
Sudarsky Lewis,
Corwin Lee,
Dawson David M.
Publication year - 1992
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870070303
Subject(s) - machado–joseph disease , dysarthria , olivopontocerebellar atrophy , psychology , ataxia , dystonia , fasciculation , degenerative disease , audiology , spasticity , pediatrics , medicine , central nervous system disease , neuroscience , psychiatry , physical medicine and rehabilitation , spinocerebellar ataxia
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.