SDCA2 - Spongy Degeneration with Cerebellar Ataxia/Générique

Nervous system degeneration

Description: 
Cerebellar dysfunction
Symptomes: 
Generalized ataxic gait, pacing, circling, inability to ambulate, seizures, central blindness. Rapid and severe progression of clinical signs.
Age d'aparition: 
Between 4 and 6 weeks old
Fréquence: 
Not available
Gène impliqué: 
ATP1B2
Mutation testée: 
c.130_131ins227
Transmission: 
Autosomal Recessive
Brevet: 
-
Remarques: 
-