Describes a potentially new familial myopathy characterized by exercise-induced leg cramps and elevated serum creatine phosphokinase peaking during adolescence.
Hypothesis-generating for novel familial myopathy with adolescent CK peaks; further genetic studies needed before clinical adoption.
Two adolescent brothers were studied because of cramps in the legs following strenuous exercise. The symptoms were maximal at adolescence and later subsided. Serum creatine phosphokinase elevations were significant. Examinations of muscle biopsy material revealed changes compatible with a myopathy. The family consists of seven children. All have eventually developed elevations of serum creatine phosphokinase, which appear to reach the highest point during adolescence. This familial disorder may represent a new myopathy with maximal penetrance at adolescence.
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Hanson et al. (1975) studied this question.
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