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May 1970

Chondrodystrophic Myotonia: Report of Two Cases: Myotonia, Dwarfism, Diffuse Bone Disease, and Unusual Ocular and Facial Abnormalities

Author Affiliations

Brooklyn, NY; Washington, DC; Brooklyn, NY
From the Division of Neurology (Dr. Aberfeld) and Department cf Medicine, Maimonides Medical Center, Brooklyn, NY (Drs. Aberfeld, Namba, and Grob), and the Armed Forces Institute of Pathology, Washington, DC (Dr. Vye). Dr. Vye is now at the Department of Pathology, University of Illinois College of Medicine, Chicago.

Arch Neurol. 1970;22(5):455-462. doi:10.1001/archneur.1970.00480230073009

FAMILIAL myotonia is usually a manifestation of myotonia congenita, paramyotonia, myotonic dystrophy, or hyperkalemic periodic paralysis. These diseases affect the muscles, and, in patients with myotonic dystrophy, the lens, gonads, hair follicles, and, occasionally, the skeleton and central nervous system. Recently, familial myotonia and nonprogressive myopathy were described in association with a bone disease causing dwarfism, skeletal deformities, and anomalies of the face and orbital region.1 The skeletal deformities differed from those which occasionally occur in patients with myotonic dystrophy. Similar abnormalities have not been reported to occur as atypical manifestations of one of the known hereditary diseases associated with myotonia.2 Because of the familial incidence, they are also very unlikely to result from the accidental association of two rare diseases, one affecting the muscles and the other the skeleton. These abnormalities probably are manifestations of a previously unrecognized hereditary disease. The results of the investigations of

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