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Specific Genetically-Determined Disease

Duane L. May, MD; Harry H. White, MD

Arch Neurol. 1968;19(3):331-338.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

MYOCLONUS may be a symptom in a wide variety of diseases which affect the central nervous system (CNS). Myoclonic jerking may occur in the course of a benign "idiopathic" convulsive disorder, as the only symptom of a nonprogressive disorder in some families (essential myoclonus), or as part of a constellation of symptoms in certain progressive degenerative diseases.

The purpose of this communication is to present the clinical details of a family in which the occurrence of myoclonus, cerebellar ataxia, and deafness in several generations is thought to represent a distinct genetically-determined disorder. The nosology and relationships between this family and the cases previously described by Unverricht,¹ Lundborg,² Lafora,³ and Hunt⁴ will be discussed.

Report of Cases

CASE 1.—The proband (V-4, Fig 1) is a 32year-old white man who was admitted to the University of Kansas Medical Center in April 1967 for evaluation of progressive hearing loss . . . [Full Text PDF of this Article]

Author Affiliations
Kansas City, Kan

From the Department of Medicine, Section of Neurology, Kansas University School of Medicine, Kansas City, Kan.

Footnotes
Submitted for publication April 16, 1968; accepted May 3.

Read at the Medical Student Research Day, University of Kansas Medical Center, March 27, 1968 and was awarded the Walter S. Sutton Prize for research in genetics.

Reprint requests to University of Kansas Medical Center, Kansas City, Kan 66103 (Dr. White).

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