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May 1943

STUDIES IN DISEASES OF MUSCLEXIII. PROGRESSIVE MUSCULAR DYSTROPHY OF ATROPHIC DISTAL TYPE; REPORT ON A FAMILY; REPORT OF AUTOPSY

Author Affiliations

NEW YORK

From the Departments of Medicine and Psychiatry, Cornell University Medical College; the Russell Sage Institute of Pathology, and the New York Hospital.

Arch NeurPsych. 1943;49(5):655-664. doi:10.1001/archneurpsyc.1943.02290170025002
Abstract

In the preceding report in this series1 reference was made to a family in which 12 members had progressive muscular dystrophy with inheritance by a single dominant hereditary factor. The data on heredity were illustrated in figure 7 of that report.

The symptoms, clinical observations and changes in creatine metabolism, as well as the inheritance of the disease in members of this family, were so unusual for progressive muscular dystrophy that a presentation of case histories appears desirable. In many respects the clinical picture resembled that of Charcot-Marie peroneal muscular atrophy, in which transmission of the disease usually is by a dominant hereditary factor.2 Since this family contained 12 of the 14 patients in the entire series in whom inheritance was by a dominant factor, it seemed of importance to the general problem of muscular disease, especially the heredity of progressive muscular dystrophy, to determine whether these patients

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