Proximal spinal muscular atrophy type 3

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Proximal spinal muscular atrophy type 3

Synonyms: Juvenile spinal muscular atrophy | Kugelberg-Welander disease | SMA type 3 | SMA type III | SMA-III | SMA3

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 progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Proximal spinal muscular atrophy type 3?

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