Details of Disease

General Information of Disease (ID: DIS8UDXL)

Disease Name Spinal muscular atrophy, type IV
Synonyms
proximal spinal muscular atrophy type 4; spinal muscular atrophy 4; spinal muscular atrophy type 4; spinal muscular atrophy, type 4; adult-onset spinal muscular atrophy; SMA 4; spinal muscular atrophy, proximal, adult, autosomal recessive; spinal muscular atrophy, type IV; SMA4; SMA type IV; spinal muscular atrophy of adults; spinal muscular atrophy, adult form; SMA type 4; SMA-IV; spinal muscular atrophy-4; adult spinal muscular atrophy
Definition
Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Disease Hierarchy
DIS0R70E: Proximal spinal muscular atrophy
DIS8UDXL: Spinal muscular atrophy, type IV
Disease Identifiers
MONDO ID
MONDO_0010056
MESH ID
C563948
UMLS CUI
C1838230
OMIM ID
271150
MedGen ID
325364
Orphanet ID
83420

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SMN1 TT8QL6X Strong Autosomal recessive [1]
SMN1 TT8QL6X Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMN1 OT54RLO1 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.Hum Mutat. 2011 Sep;32(9):989-94. doi: 10.1002/humu.21528.