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A Report of Six Cases

Paul E. Barkhaus, MD; William R. Kennedy, MD; Lawrence Z. Stern, MD; Ryan B. Harrington, MD

Arch Neurol. 1982;39(2):112-116.

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.

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.

Footnotes
Accepted for publication May 9, 1981.

Read in part before the 17th annual meeting of the Federation of Western Societies of Neurological Science, Santa Barbara, Calif, Feb 24, 1980.

Reprint requests to Department of Neurology, 4010 Medical Sciences Bldg, University of Cincinnati Medical Center, Cincinnati, OH 45267 (Dr Barkhaus).

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