DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR-ATROPHY

Citation
Cjm. Frijns et al., DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR-ATROPHY, Muscle & nerve, 17(2), 1994, pp. 192-197
Citations number
14
Categorie Soggetti
Neurosciences
Journal title
ISSN journal
0148639X
Volume
17
Issue
2
Year of publication
1994
Pages
192 - 197
Database
ISI
SICI code
0148-639X(1994)17:2<192:DCBSM>2.0.ZU;2-K
Abstract
The affected members of the family described in this article exhibit c ongenital nonprogressive atrophy and weakness of lower limb muscles in association with contractures. Clinical and laboratory findings suppo rt a dominant lower motor neuron disorder. DNA analysis excluded linka ge of the disease with SMA markers on the long arm of chromosome 5. Th e condition must be differentiated from congenital and infantile SMA, from ''arthrogryposis multiplex congenita, distal type,'' and from non hereditary types of congenital arthrogryposis. (C) 1994 John Wiley & Sons, Inc.