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Familial myoadenylate deaminase deficiency and exertional myalgia

Department of Neurology (Drs. Kelemen, Rice, Bradley, and Munsat), Tufts-New England Medical Center, Boston, MA, the Department of Neurology (Dr. DiMauro), Columbia-Presbyterian Medical Center, New York, NY, and the Department of Neurology (Dr. Hogan), Medical University of South Carolina, Charleston, SC.

In 14 members of four families with a hereditary syndrome of exertional myalgia, five of eight muscle biopsies from symptomatic individuals showed histochemical and biochemical absence of myoadenylate deaminase (MADA). In the others, MADA biochemical activity was normal in two and reduced but not absent (intermediate level) in one. Asymptomatic relatives had normal histochemical MADA activity, but three had intermediate biochemical levels.

In a survey of 302 routine muscle biopsies, 3 of 36 patients with myalgia had absence of MADA. Three of 266 biopsied for other conditions were MADA-deficient. Despite some inconsistencies, MADA deficiency seems-to be relevant to this clinical syndrome.

Address correspondence and reprint requests to Dr. Kelemen, Division of Neurology, Nassau County Medical Center, East Meadow, NY 11554.

Presented in part at the thirty-second annual meeting of the American Academy of Neurology, New Orleans, LA, May 1980.

Accepted for publication December 10, 1981.

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