Charlevoix-Saguenay spastic atresia
Related people
Spastic ataxia, characterized by spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory potentials in the lower limbs, retinal striations similar to those in Leber’s atrophy, and frequent mitral valve prolapse.
Description
Spastic ataxia, characterized by spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory potentials in the lower limbs, retinal striations similar to those in Leber’s optic atrophy, and frequent mitral valve prolapse. The disturbance was first observed in the Charlevoix-Saguenay region of Quebec in Canada. Inheritance is autosomal dominant.
