Spinal muscular atrophy type II
- 1 July 1971
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 2 (4) , 203-209
- https://doi.org/10.1111/j.1399-0004.1971.tb00278.x
Abstract
A form of spinal muscular atrophy (S. M. A.) intermediate in severity between the infantile (Werd‐nig‐Hoffmann or type I) and juvenile (Kugelberg‐Welander or type III) forms of this disease has been defined. This is referred to as intermediate or type II S. M. A. and is characterized by proximal muscle weakness with onset usually between 3 and 15 months and survival beyond 4 years and usually into adolescence or later. The finclings in 14 patients with this type of S. M. A. are described. It seems possible that it is inherited as an autosomal recessive trail.Keywords
This publication has 9 references indexed in Scilit:
- The nosology of the spinal muscular atrophies.Journal of Medical Genetics, 1971
- Chronic proximal spinal muscular atrophyJournal of the Neurological Sciences, 1970
- Chronic spinal muscular atrophy in adults: Part 1. The Kugelberg-Welander syndromeJournal of the Neurological Sciences, 1969
- An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'.Journal of Neurology, Neurosurgery & Psychiatry, 1968
- INFANTILE MUSCULAR ATROPHY A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETYBrain, 1964
- Heredofamilial Juvenile muscular Atrophy Simulating muscular DystrophyArchives of Neurology & Psychiatry, 1956
- Dritter Beitrag zur Lehre von der hereditären progressiven spinalen Muskelatrophie im KindesalterZeitschrift für Neurologie, 1900
- Die frühinfantile progressive spinale AmyotrophieArchiv Fur Psychiatrie Und Nervenkrankheiten, 1894
- Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber anf neurotischer GrundlageArchiv Fur Psychiatrie Und Nervenkrankheiten, 1891