juvenile amyotrophic lateral sclerosis type 27 (DOID:0081381)
Alliance: disease page
Alt IDs: OMIM:620285
Definition: An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.