PMID: 1117317Apr 1, 1975

X-linked spinal and bulbar muscular atrophy of late onset. A separate type of motor neuron disease?

Journal of the Neurological Sciences
C StefanisC P Panayiotopoulos

Abstract

The clinical, electrophysiological and muscle biopsy findings of 7 cases with a peculiar form of X-linked hereditary degenerative motor neuron disease are presented. It is suggested that the disease might be a separate clinical entity with the following characteristics: (1) sex-linked recessive inheritance, (2) unusual but not invariable late onset, (3) slow progression, (4) facial-bulbar and proximal spinal muscle involvement, (5) consistent fasciculations, sometimes massive and more pronounced about the lips, chin and tongue, (6) fine tremor of the hands, (7) muscle cramps usually preceding the other symptoms, and (8) gynaecomastia as a frequent but not a constant feature.

References

Jan 1, 1973·Brain : a Journal of Neurology·G K van Wijngaarden, J Bethlem
Sep 1, 1974·Journal of the Neurological Sciences·C P PanayiotopoulosT Papapetropoulos
Apr 1, 1971·Journal of Neurology, Neurosurgery, and Psychiatry·A J McComasR E Sica
Mar 1, 1969·Archives of Neurology·D C Aberfeld, T Namba
Apr 1, 1966·Archives of Neurology·H TsukagoshiE Ono
Feb 1, 1966·Journal of Neurology, Neurosurgery, and Psychiatry·M Gross
Sep 1, 1967·Archives of Neurology·G M FenichelP Hunt
May 1, 1956·A.M.A. Archives of Neurology and Psychiatry·E KUGELBERG, L WELANDER
Aug 1, 1961·Archives of Neurology·R K BYERS, B Q BANKER
Jun 1, 1965·Archives of Neurology·H TSUKAGOSHIT TSUBAKI

Citations

Feb 1, 1979·Annals of Neurology·L P RowlandF E Wanat
Mar 1, 1978·Muscle & Nerve·W G BradleyP R Fawcett
Jul 1, 1978·Muscle & Nerve·S P RingelH A Lubs
Jan 1, 1983·Journal of Neurology·I Hausmanowa-PetrusewiczZ Janczewski
Mar 1, 1985·Italian Journal of Neurological Sciences·R Fabbri, P Martinelli
Feb 1, 1989·Journal of the Neurological Sciences·F UsukiA Igata
Aug 11, 1995·Molecular and Cellular Endocrinology·H E MacLeanJ D Zajac
Aug 7, 2004·Clinical Neurology and Neurosurgery·A C F HuiHong Kong Neuromuscular Disease Study Group
Jan 1, 1977·Folia Psychiatrica Et Neurologica Japonica·T KuriharaT Shirabe
Jul 1, 1997·Brain Pathology·M A Nance
Nov 1, 1982·Journal of Neurology, Neurosurgery, and Psychiatry·A E HardingJ R Ponsford
Mar 1, 1987·Journal of Neurology, Neurosurgery, and Psychiatry·J WildeD Thrush
Aug 12, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
Mar 1, 1996·Prenatal Diagnosis·C YapijakisC Papageorgiou
Oct 20, 1976·Psychopharmacology·T F BaborJ Kuehnle
Jun 1, 1985·Acta Neurologica Scandinavica·P MartinelliE Lugaresi
Jan 1, 1993·Acta Neurologica Scandinavica·C Ertekin, H Sirin

Related Concepts

Nerve Impulses
Surface Electromyography
Infant Gynecomastia
Limb Cramp
Muscle
Neurogenic Muscular Atrophy
Genealogical Tree
Sex Chromosome Aberrations
Static Tremor

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