Catalog

Progressive Ataxia palatal tremor syndrome-GFAP gene mutation

No MMS code

Link to WHO Definition

Progressive Ataxia palatal tremor syndrome-GFAP gene mutation – http://id.who.int/icd/entity/1598592648

Progressive ataxia with palatal tremor associated with glial fibrillary acidic protein mutations. Characterized by tremor that persists during sleep and is sometimes associated with pendular nystagmus synchronized with the palatal movements.