Details of Disease

Disease Name

Spinal muscular atrophy, type II

Sma 2; Dubowitz disease; spinal muscular atrophy type II; muscular atrophy, spinal, Intermediate type; spinal muscular atrophy type 2; spinal muscular atrophy, type 2; SMA II; proximal spinal muscular atrophy type 2; Intermediate spinal muscular atrophy; spinal muscular atrophy, type II; muscular atrophy, spinal, infantile chronic form; chronic infantile spinal muscular atrophy; SMA-II; SMA type II; SMA2; spinal muscular atrophy-2; SMA type 2; muscular atrophy, spinal, intermediate type; chronic spinal muscular atrophy

Definition

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile 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

DIS3GNQ4: Spinal muscular atrophy, type II

Disease Identifiers

MONDO ID

MONDO_0009673

MESH ID

D014897

UMLS CUI

C0393538

OMIM ID

253550

MedGen ID

95975

Orphanet ID

83418

SNOMED CT ID

128212001

General Information of Disease (ID: DIS3GNQ4)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sodium phenylbutyrate	DMXLBCQ	Approved	Small molecular drug	[1]
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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	[2]
SMN1	TT8QL6X	Strong	Biomarker	[3]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CST7	OTQWZUVQ	Strong	Biomarker	[3]
DBNL	OTT2OQOV	Strong	Biomarker	[3]
NAIP	OTLA925F	Strong	GermlineModifyingMutation	[4]
SMN1	OT54RLO1	Strong	Autosomal recessive	[2]
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References

1	Sodium phenylbutyrate FDA Label
2	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.
3	Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy.Brain Dev. 2013 Feb;35(2):165-71. doi: 10.1016/j.braindev.2012.03.009. Epub 2012 Apr 17.
4	Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.Kobe J Med Sci. 2002 Apr;48(1-2):25-31.