Proximal spinal muscular atrophy

rare

Proximal spinal muscular atrophies are 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.

Identifiers: MONDO:0019079 Orphanet:70
Part of: Hereditary peripheral neuropathy Spinal muscular atrophy
Also known as: SMA

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Autosomal dominant childhood-onset proximal spinal muscular atrophy	MONDO:0018190	3
Lower motor neuron syndrome with late-adult onset	MONDO:0014025		CHCHD10
Spinal muscular atrophy, type 1	MONDO:0009669		SMN1
Spinal muscular atrophy, type II	MONDO:0009673		SMN1
Spinal muscular atrophy, type III	MONDO:0009672		SMN1
Spinal muscular atrophy, type IV	MONDO:0010056		SMN1

Rare disease

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