Abstract:
:The authors reported a large study of 93 children presenting a severe form of progressive muscular dystrophy. The first clinical symptoms were noticed between 3 to 12 years. The atrophy affects, predominantly, the girdle and truncal muscles. The hypertrophy of the calves is almost consistent. The progression of the disease is severe, often like that the Duchenne type. In most of the cases, inability to walk occurs between 10 and 20 years. The serum creatine kinase activity is markedly high in the first stages of the disease. There is a necrotic regenerative pattern at muscle biopsy, associated with a marked type 1 predominance. The disease appears to be inherited as an autosomal recessive trait, with equal distribution among the two sexes. There is a marked variability in the intensity of symptoms and in the severity of the course of the disease from one sibling to another, and from one family to another. This disease is frequent in Tunisia and seems to be related to the high degree of consanguinity in this country.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Ben Hamida M,Fardeau M,Attia Ndoi
10.1002/mus.880060702subject
Has Abstractpub_date
1983-09-01 00:00:00pages
469-80issue
7eissn
0148-639Xissn
1097-4598journal_volume
6pub_type
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