Details of Disease

General Information of Disease (ID: DISURBY5)

• Disease Name: Inherited rippling muscle disease
• Synonyms: RMD; rippling muscle disease
• Definition: A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
• Disease Hierarchy:
  DISU0K94: Hereditary skeletal muscle disorder
  DISKW2XB: Rippling muscle disease
  DISURBY5: Inherited rippling muscle disease

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
CAV3	OTWSFDB4	Supportive	Autosomal dominant	[1]

References

• [1] Consequences of a novel caveolin-3 mutation in a large German family. Ann Neurol. 2003 Feb;53(2):233-41. doi: 10.1002/ana.10442.