SDCA1 - Spongy Degeneration with Cerebellar Ataxia/Malinois

Race liée: 

Nervous system degeneration

Description: 
Cerebellar dysfunction
Symptomes: 
Wide-based ataxic gait (more obvious in the hind limbs), exagerated gait movements, seizures, run into obstacles. Rapid and severe progression of clinical signs. Less consistent: stumbling, staggering, intention tremor, bunny hopping, balance loss, falling and decelerated eye ball coordination during fast head motion. Muscle spasms and aggravation of cerebellar symptoms after stress or exercise
Age d'aparition: 
Between 4 and 9 weeks old
Fréquence: 
Not available
Gène impliqué: 
KCNJ10
Mutation testée: 
c.986T>C
Transmission: 
Autosomal Recessive
Brevet: 
-