Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer cramp syndrome- MedGen UID:
- 334104
- •Concept ID:
- C1842531
- •
- Disease or Syndrome
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by Luthy et al., 2019).
Optic atrophy 8- MedGen UID:
- 898923
- •Concept ID:
- C4085249
- •
- Disease or Syndrome
Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss.
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).