Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. Disease data Classification Disease Synonyms Autosomal dominant spastic ataxia type 7 SPAX7 Autosomalna dominująca ataksja spastyczna typu 7 SPAX7 ORPHA code 1182 OMIM code 108650 ICD10 code G11.4 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl