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January 1973

Scapuloperoneal Muscular Atrophy With Cardiopathy: An X-Linked Recessive Trait

Author Affiliations

Fukuoka, Japan; Kitakyushu City, Japan
From the Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan (Dr. Mawatari), and Moji National Railroad Hospital, Moji-ku, Kitakyushu City, Japan (Dr. Katayama). Dr. Mawatari is now with the University of Pennsylvania School of Medicine, Philadelphia.

Arch Neurol. 1973;28(1):55-59. doi:10.1001/archneur.1973.00490190073010

In a family with spinal muscular atrophy, the distinctive clinical features were (1) juvenile onset; (2) scapulohumero-peroneal muscular atrophy and weakness; (3) cardiopathy with conduction defect; and (4) probable X-linked recessive inheritance. Marked limitation of the neck flexion due to shortness (or atrophy) of posterior nuchal muscles and shortness of the Achilles tendons were early manifestations. A similar but milder electrocardiographic abnormality was found in the mothers of the patients; female carriers may have a latent cardiopathy. The ECG abnormalities suggest a selective disorder of the conduction system. This seems to be a new clinical entity.

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