Late-onset X-linked recessive spinal and bulbar muscular atrophy.

Abstract:

: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.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Ringel SP,Lava NS,Treihaft MM,Lubs ML,Lubs HA

doi

10.1002/mus.880010406

subject

Has Abstract

pub_date

1978-07-01 00:00:00

pages

297-307

issue

4

eissn

0148-639X

issn

1097-4598

journal_volume

1

pub_type

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