amyotrophic lateral sclerosis type 2; juvenile amyotrophic lateral sclerosis

Epidemiology

rare

Pathology

• neurodegeneration of upper & lower motor neurons

Genetics

• associated with mutations in the gene for alsin

Clinical manifestations

• upper & lower motor neuron disease
  • hyperreflexia
  • spasticity
  • muscle fasciculation
  • muscle atrophy
• results in fatal paralysis
• sensory abnormalities are absent
• death usually occurs within 2 to 5 years

More general terms

• amyotrophic lateral sclerosis (ALS); Lou Gerig's disease
• genetic disease of the central nervous system

Additional terms

• alsin; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein (ALS2 ALS2CR6 KIAA1563)

Database

• OMIM: https://mirror.omim.org/entry/205100