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A new familial arthrogryposis without weakness

Departments of Pediatrics and Neurology, University of California, San Francisco.

A father and two daughters have a distinctive form of arthrogryposis multiplex congenita in which there is neither weakness nor atrophy about the affected joints despite the existence of myopathy. Contractures of the hips arid shoulders are present in all three individuals, but only the father has severe involvement of the hands and feet. Serum creatine phosphokinase values are 1.5 and three times normal in the daughters and five times normal in the father. Although it is likely that the myopathy and arthrogryposis are due to the effects of a dominantly inherited gene that appears as a new mutation in the father, the mechanism of production of the arthrogryposis in the absence of weakness is unknown.

Dr. Dacnil's address is University of California, San Francisco, 63O-S, Third and Parnassus Aves., San Francisco 94143.

Read at the twenty-fourth annual meeting of the American Academy of Neurology. St. Louis, April 1972.

This work was supported in part by grants from the National Foundation-March of Dimes.

Received for publication April 17. 1973.