The inheritance pattern is autosomal<unk> . The disorder is caused by mutations in the SACS gene on chromosome 13. It is unclear as to how these mutations affect the central nervous system (CNS) and skeletal muscles presenting in the signs and symptoms of<unk> .
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Spinal muscular atrophy with lower extremity predominance 1
Spinal muscular atrophy with lower extremity predominance 2A
Autosomal recessive cerebellar ataxia type 1
Jokela type spinal muscular atrophy
Madras motor neuron disease
Spinal muscular atrophy with lower extremity predominance 2B
X-linked spinal muscular atrophy type 2