Details of Disease

General Information of Disease (ID: DISAQA19)

• Disease Name: Myoclonus, familial
• Synonyms: FCM; myoclonus, familial cortical; familial cortical myoclonus; familial myoclonus
• Definition: A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISOJJ2D: Movement disorder
  DISAQA19: Myoclonus, familial

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
NOL3	OT1K0L0D	Supportive	Autosomal dominant	[1]

References

• [1] Familial cortical myoclonus with a mutation in NOL3. Ann Neurol. 2012 Aug;72(2):175-83. doi: 10.1002/ana.23666.