Details of Disease | DrugMAP

General Information of Disease (ID: DIS9M11B)

Disease Name	SCN4A-related myopathy, autosomal recessive
Synonyms	SCN4A-related myopathy, autosomal recessive; congenital myopathy with severe foetal hypokinesia; congenital myopathy with severe fetal hypokinesia; congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis; myopathy with ptosis and mild dystrophic pattern
Definition	Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISLSK9G: Congenital myopathy DIS9M11B: SCN4A-related myopathy, autosomal recessive

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN4A	DT7SZIQ	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	OT0MYDHC	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.