Proximal spinal muscular atrophy type 2

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Name:
Proximal spinal muscular atrophy type 2
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 between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.
ORPHAcode:
83418
Synonyms:
Intermediate spinal muscular atrophy
SMA type 2
SMA type II
SMA-II
SMA2
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14