Details of Disease

General Information of Disease (ID: DISOLM1C)

• Disease Name: Autosomal recessive myogenic arthrogryposis multiplex congenita
• Synonyms: SYNE1-related arthrogryposis multiplex congenita; SYNE1-related AMC; autosomal recessive myogenic AMC
• Definition: Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.
• Disease Hierarchy:
  DISMCQP6: Arthrogryposis multiplex congenita
  DISKY7OY: Congenital muscular dystrophy
  DISOLM1C: Autosomal recessive myogenic arthrogryposis multiplex congenita
• Disease Identifiers:
  MONDO ID: MONDO_0017892
  UMLS CUI: C4707155
  MedGen ID: 1647450
  Orphanet ID: 319332
  SNOMED CT ID: 764812008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SYNE1	OTSBSLUH	Supportive	Autosomal recessive	[1]

References

• [1] Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Sep 15;18(18):3462-9. doi: 10.1093/hmg/ddp290. Epub 2009 Jun 19.