Proximal spinal muscular atrophy type 1

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Name:
Proximal spinal muscular atrophy type 1
Description:
A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support.
ORPHAcode:
83330
Synonyms:
Infantile spinal muscular atrophy
Infantile-onset spinal muscular atrophy
SMA type 1
SMA type I
SMA-I
SMA1
Werdnig-Hoffmann disease
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14