Article
Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 1999
Dubowitz V
Abstract excerpt
The classical form of severe spinal muscular atrophy (SMA type 1; Werdnig-Hoffmann disease) has a very consistent clinical phenotype that is well recognized by paediatricians. It usually presents at birth or within the first few months of life. There is general hypotonia, with axial and limb weakness; the legs are affected more than the arms and proximal muscles more than distal, leaving residual spontaneous...
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