McArdle disease in a Druze family
Sarova-Pinhas, I.; Sadeh, M.
Israel Journal of Medical Sciences 25(2): 64-68
1989
ISSN/ISBN: 0021-2180 PMID: 2703328 Document Number: 334476
McArdle disease is reported in three generations of a consanguineous Druze family. The diagnosis was established on the basis of a failure of a rise in lactate in the ischemic forearm exercise test, glycogen accumulation in muscle fibers and the lack of myophosphorylase by histochemical and biochemical studies. The inheritance pattern is compatible with an autosomal recessive mode. Examination of family members revealed a marked variability in the clinical findings and functional status. This is the first reported case of the disorder in this ethnic group.