Late‐onset X‐linked recessive spinal and bulbar muscular atrophy | Zendy

Ringel Steven P. | Zendy; Lava Neil S. | Zendy; Treihaft Marc M. | Zendy; Lubs Mary L. | Zendy; Lubs Herbert A. | Zendy

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Late‐onset X‐linked recessive spinal and bulbar muscular atrophy

Author(s) -

Ringel Steven P.,

Lava Neil S.,

Treihaft Marc M.,

Lubs Mary L.,

Lubs Herbert A.

Publication year - 1978

Publication title -

muscle and nerve

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.025

H-Index - 145

eISSN - 1097-4598

pISSN - 0148-639X

DOI - 10.1002/mus.880010406

Subject(s) - spinal muscular atrophy , dysarthria , atrophy , muscle biopsy , abnormality , medicine , weakness , progressive muscular atrophy , dysphagia , amyotrophy , pathology , anatomy , biopsy , disease , amyotrophic lateral sclerosis , audiology , surgery , psychiatry

A family is described in which five males have late‐onset facial weakness, dysarthria, dysphagia, and slowly progressive proximal weakness. Electrodiagnostic studies and muscle biopsy were compatible with spinal muscular atrophy. This family appears quite similar to several previously reported families with late‐onset X‐linked recessive spinal and bulbar muscular atrophy. Because of the relative homogeneity of this particular phenotype of spinal muscular atrophy, a single metabolic derangement was sought. Three obligate carriers were studied, and no abnormality was detected. A further family with this condition is briefly discussed.

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