Proximal spinal muscular atrophy type 1

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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.

Synonyms: SMA type I SMA-I Infantile spinal muscular atrophy Werdnig-Hoffmann disease SMA type 1 SMA1 Infantile-onset spinal muscular atrophy

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has age of onset

has annual incidence range

has inheritance

has point prevalence range



Clinical subtype

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