A large inbred Palestinian family with two forms of muscular dystrophy.
This paper reports the results of a clinical, genetic and histopathological study of 19 patients belonging to a large inbred Palestinian family living in Um-El-Fahem, a town located in Israel, which is solely inhabited by Arabs. Their custom of marrying only among relatives has kept the genetic homogeneity of the families intact. There were ten cases of congenital muscular dystrophy (CMD) and nine cases of adult limb-girdle muscular dystrophy (LGMD) belonging to two generations of the same family. Both forms showed autosomal recessive inheritance. The patients with congenital muscular dystrophy had generalized muscular weakness and hypotonia at birth without arthrogryposis or CNS involvement and then had a relatively benign evolution with stabilization of the clinical picture at different ages and variable degree of severity. Muscle biopsy showed a dystrophic pattern. The other nine patients presented with the picture of adult limb-girdle muscular dystrophy but with an unusual tendency to the stabilization of symptoms.
Mahjneh
I
I
Department of Neurological Science, University of Florence, Italy.
Vannelli
G
G
Bushby
K
K
Marconi
G P
GP
D000293:Adolescent; D000328:Adult; D000368:Aged; D003241:Consanguinity; D004576:Electromyography; D005260:Female; D006801:Humans; D007557:Israel; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000208:ethnology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree