Clinical and genetic studies of muscular dystrophy in young XXXX .

@entity1 @entity1032 @entity908 @entity1109 @entity425 @entity1555 @entity74 @entity2057 @entity291
During the years 1971-81, we treated 7 @entity1 with clinical features suggestive of @entity1555 . Muscle weakness developed at 1.5 or at 5-8 years and progressed rapidly. Two @entity1 were in wheel-chairs in their teens. @entity2057 began in the proximal parts of the lower extremities and pseudohypertrophy of the @entity291 occurred in all patients. Serum @entity908 phosphokinase (CPK) activity was moderately to highly elevated in all cases and EMG showed a moderate to marked myopathic pattern. Chromosomal studies showed normal finding in the five examined. @entity1032 (IQ 37-73) was present in four. Consanguinity was present in 3 out of the 7 cases. Two mothers showed elevated levels of CPK and myopathic patterns on EMG. In addition, one mother had slight @entity425 at the age of 42 and another had prominent pseudohypertrophy of the @entity291 . Sex-linked recessive inheritance might be considered here, because carriers of @entity74 showed elevated levels of CPK or mild @entity1109 . The other five of our seven might be cases of autosomal recessive inheritance, because the mothers had normal serum CPK levels and in 2 families there was a consanguinity.
