Proximal spinal muscular atrophy type 1

Go to external page http://www.orpha.net/ORDO/Orphanet_83330


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

This is just here as a test because I lose it

Term information

database cross reference
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330

hasDbXref

UMLS:C0043116

ICD-10:G12.0

OMIM:253300

has age of onset

http://www.orpha.net/ORDO/Orphanet_409945

http://www.orpha.net/ORDO/Orphanet_409944

has annual incidence range

http://www.orpha.net/ORDO/Orphanet_409976

has inheritance

http://www.orpha.net/ORDO/Orphanet_409930

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409977

notation

ORPHA:83330

Clinical subtype

part of

http://www.orpha.net/ORDO/Orphanet_70

present in

http://www.orpha.net/ORDO/Orphanet_409984