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June 1971

Arthrogryposis Multiplex Congenita: Simultaneous Involvement of Peripheral Nerve and Skeletal Muscle

Author Affiliations

Richmond, Va
From the divisions of neurology (Dr. Hooshmand) and neuropathology (Drs. Martinez and Rosenblum), Medical College of Virginia, Richmond, Va.

Arch Neurol. 1971;24(6):561-572. doi:10.1001/archneur.1971.00480360095013

A sporadic case of arthrogryposis multiplex congenita (AMC) is reported in which electrical and ultrastructural studies demonstrated the presence of a neuropathy. Muscle biopsy showed "dystrophoid" or "pseudomyopathic" changes, which were suggested to represent the effects of embryonic denervation and maturation arrest and faulty reinnervation. Histochemical studies revealed lack of differentiation of muscle fiber types as well as lack of oxidative enzymatic activity in the "cores" in the majority of fibers, which were also devoid of mitochondria on electron microscopic examination. The interpretation of myopathic changes in cases of AMC should be made cautiously, since neurogenic involvement early in gestation may cause changes resembling a primary myopathy.

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