Decreased foetal movement is apparent already before birth. The child is born with a generalised muscle weakness (hypotonia) and contractures resembling arthrogryposis multiplex congenita, respiratory insufficiency, and sometimes facial deformations. The disorder is frequently fatal in early childhood.
Spinal muscular atrophy with lower extremity predominance 2B
Spinal muscular atrophy with lower extremity predominance 2A
Spinal muscular atrophy with lower extremity predominance 1
Non-progressive congenital ataxia
Madras motor neuron disease
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Spinal and bulbar muscular atrophy
Autosomal dominant cerebellar ataxia