GLD - Globoid Cell Leukodystrophy/Générique

Krabbe disease

Description: 
Lysosomal strorage disease causing severe neuronal degeneration
Symptomes: 
Weakness of the limbs, tremors, uncoordinated movement, blindness, behavioural disorder
Age d'aparition: 
Between 1 and 5 months old
Fréquence: 
Not available
Gène impliqué: 
GALC
Mutation testée: 
c.473A>C
Transmission: 
Autosomal Recessive
Brevet: 
-