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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:
-