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Familial progressive bulbar and spinal muscular atrophy

Juvenile onset and late morbidity with ragged-red fibers

From the Department of Neurology (Dr. Dobkin) and the Department of Neuropathology (Dr. Verity), Neuropsychiatric Institute, University of California at Los Angeles, Center for the Health Sciences.

Six members of a family had a neurologic disease with autosomal dominant transmission and adolescent onset of progressive wasting of predominantly distal axial muscles and muscles innervated by cranial nerves V, VII, X, and XII, leading to severe morbidity in adulthood. Muscle biopsy of the propositus revealed "ragged-red" fibers, while electromyography and autopsy material were consistent with a neurogenic disease. The case seemed unique to any clinicogenetic nosology, because it was associated with a cardiac conduction defect, a mitochondrial abnormality in skeletal muscle, and a course, distribution, and degree of weakness that included features of both chronic spinal muscular atrophy and amyotrophic lateral sclerosis.

Requests for reprints should be addressed to Dr. Dobkin, Department of Neurology, Reed Neurological Research Center, 710 Westwood Plaza, Los Angeles, CA 90024.

Received for publication August 4, 1975.

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