Details of Disease

General Information of Disease (ID: DIS73Q1D)

• Disease Name: Congenital myopathy with myasthenic-like onset
• Synonyms: congenital myopathy with myasthenic-like onset
• Definition: Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.
• Disease Hierarchy:
  DISIRF54: RYR1-related myopathy
  DIS73Q1D: Congenital myopathy with myasthenic-like onset
• Disease Identifiers:
  MONDO ID: MONDO_0018528
  UMLS CUI: C4706390
  MedGen ID: 1642781
  Orphanet ID: 424107
  SNOMED CT ID: 763315005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RYR1	TTU5CIX	Disputed	GermlineCausalMutation	[1]
RYR1	TTU5CIX	Supportive	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RYR1	OTWUB65S	Supportive	Autosomal recessive	[1]
PAX7	OTDMQRPO	Moderate	Autosomal recessive	[2]

References

• [1] RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. Neuromuscul Disord. 2014 Aug;24(8):707-12. doi: 10.1016/j.nmd.2014.05.003. Epub 2014 May 23.
• [2] 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.