Details of Disease | DrugMAP

General Information of Disease (ID: DISZM0RN)

Disease Name	Benign Samaritan congenital myopathy
Definition	Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
Disease Hierarchy	DISLSK9G: Congenital myopathy DISZM0RN: Benign Samaritan congenital myopathy
Disease Identifiers	MONDO ID MONDO_0017936 UMLS CUI C4749502 MedGen ID 1666762 Orphanet ID 324581 SNOMED CT ID 770787005

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
RYR1	TTU5CIX	Supportive	Autosomal recessive	[1]
RYR1	TTU5CIX	Definitive	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RYR1	OTWUB65S	Supportive	Autosomal recessive	[1]
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References

1	Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol. 2012 Oct;124(4):575-81. doi: 10.1007/s00401-012-1007-3. Epub 2012 Jul 3.