Congenital autosomal dominant distal spinal muscular atrophy.
Neuromuscul Disord
; 8(6): 405-8, 1998 Aug.
Article
in En
| MEDLINE
| ID: mdl-9713859
ABSTRACT
We present a father and son with congenital foot deformity. The father at age 41 years used crutches and the son at 7 years walked unaided. Both had atrophy and weakness of lower leg muscles and mild proximal and hand intrinsic weakness. Knee and ankle myotactic reflexes were absent and sensation was intact. Creatine kinase level was normal, nerve conduction studies wer normal and electromyography showed chronic neurogenic change. In both, nerve biopsies were normal and muscle biopsies showed type 1 predominance. The boy's serum hexosaminidase, spinal MRI and SMN gene were normal. This may be the first well documented example of congenital autosomal dominant distal spinal muscular atrophy affecting legs and arms.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spinal Muscular Atrophies of Childhood
/
Genes, Dominant
Limits:
Adult
/
Child
/
Humans
/
Male
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
1998
Document type:
Article
Affiliation country:
Canadá