Format

Send to

Choose Destination
See comment in PubMed Commons below
Mov Disord. 1992;7(3):204-8.

Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.

Author information

1
Neurology Division, Brigham and Women's Hospital, West Roxbury, Massachusetts.

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.

PMID:
1620136
DOI:
10.1002/mds.870070303
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center