Conditions / Nervous system
amyotrophic lateral sclerosis type 20
info · Nervous system
An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12.
Signs and symptoms
- Elevated circulating alkaline phosphatase concentration
- Muscular dystrophy
- Amyotrophic lateral sclerosis
- Rimmed vacuoles
- Muscle fiber inclusion bodies
Also known as: ALS20; amyotrophic lateral sclerosis 20