Dystonia and unique muscle features. A 23-year follow-up and correction of diagnosis in two brothers.
Arch Neurol
; 52(8): 825-6, 1995 Aug.
Article
em En
| MEDLINE
| ID: mdl-7639635
ABSTRACT
OBJECTIVE:
To provide follow-up information and a corrected diagnosis on two brothers who were primarily described in the ARCHIVES in 1971 as having had a genetic dystonia with unusual muscle biopsy features.MEASURES:
Clinical observation of response to treatment and muscle histologic findings.RESULTS:
These brothers are an unusual example of dopa-responsive dystonia that was present since birth. The muscle histopathologic features were caused by an abnormal cerebral influence on the developing motor unit and were not a primary abnormality. A repeated muscle biopsy performed 1 year after treatment continued to show the same pattern of fiber-type abnormalities.CONCLUSIONS:
Dopa-responsive dystonia can be present from birth or early infancy. The response to levodopa is excellent even after a delay in treatment of more than 20 years. Intrauterine dystonia can cause a predominance of small type 2 fibers. A trial of levodopa/carbidopa is indicated in all patients with a childhood-onset dystonia or gait disturbance.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article