PMID: 108363May 1, 1979

Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations

Journal of the Neurological Sciences
J SchoenenP Franchimont

Abstract

Clinical, electrophysiological, histological and neuroendocrinological findings in a peculiar form of progressive spinal and bulbar muscular atrophy affecting 4 members in two different families are reported. The clinical hallmarks, which characterize this entity among the group of degenerative motor neuron diseases are: sex-linked recessive inheritance; onset in the third decade; slow progression; involvement of facial and bulbar muscles in addition to wasting of the proximal and, in some cases, the distal musculature; asymmetry of clinical signs; consistent and abundant fasciculations predominantly in the peri-oral muscles; intention tremor and a well-developed gynaecomastia, which is the first clinical sign. Electrophysiological and histological findings confirm the neurogenic origin of the muscular atrophy; in addition, muscle biopsy shows "myopathic-like" changes in one case and serum muscle enzyme levels are elevated in all neurologically affected patients. It is believed that the clinical entity corresponds to the rare type III proximal hereditary motor neuropathy (or "Kennedy's disease"), of which 25 published cases are reviewed. Neuroendocrinological data in two patients demonstrate an androgenic insufficiency of hypot...Continue Reading

Citations

Jul 1, 1997·Brain Pathology·M A Nance
Sep 13, 2006·Muscle & Nerve·Vanessa D MarquesWilson Marques
Mar 1, 1987·Journal of Neurology, Neurosurgery, and Psychiatry·J WildeD Thrush
Jan 1, 1983·Journal of Neurology·I Hausmanowa-PetrusewiczZ Janczewski
Jun 1, 1985·Acta Neurologica Scandinavica·P MartinelliE Lugaresi
Jun 28, 2014·Brain : a Journal of Neurology·Kristien PeetersAlbena Jordanova
Nov 1, 1982·Journal of Neurology, Neurosurgery, and Psychiatry·A E HardingJ R Ponsford

Related Concepts

Surface Electromyography
Genes, Recessive
Hypothalamo-Hypophyseal System
Gonadorelin Hydrochloride
Motor Neurons
Foley-Denny-Brown Syndrome
Genealogical Tree
Sex Chromosome Aberrations
Proterelin Tartrate Hydrate
X Chromosome

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