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Proximal spinal muscular atrophy

ORPHA:70· ICD-10 G12.0

Definition

A group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

Prevalence
1-9 / 100 000
Inheritance
Autosomal recessive
Age of onset
All ages