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Article
February 1982

Hereditary Proximal Spinal and Bulbar Motor Neuron Disease of Late OnsetA Report of Six Cases

Author Affiliations

From the Department of Neurology, University of Arizona, Tucson (Drs Barkhaus and Stern); the Department of Neurology, University of Minnesota, Minneapolis (Dr Kennedy); and the Neuropsychiatric Institute, Fargo, ND (Dr Harrington). Dr Barkhaus is currently with the Department of Neurology, University of Cincinnati.

Arch Neurol. 1982;39(2):112-116. doi:10.1001/archneur.1982.00510140046012
Abstract

• Six cases of a comparatively rare motor neuron disease are described. Essential features of this syndrome include (1) X-linked inheritance; (2) adult onset in the fourth to fifth decades; (3) slow progression; (4) predominant proximal and bulbar muscle involvement; and (5) absence of sensory or pyramidal tract signs. The previously reported finding of gynecomastia was absent, whereas longitudinal midline furrowing of the tongue was present in only one case. Electromyography in five patients revealed neurogenic changes. Muscle biopsies in two patients showed fiber type grouping with type I fiber predominance. The coexistence of this form of motor neuron disease and diabetes mellitus is prominent in family 2. It is important to recognize that these patients have a chronic, slowly progressive illness. The prognosis for longevity is good, although severe disability is inevitable. Management includes reassurance, supportive therapy, genetic counseling, and periodic testing for diabetes.

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