Version: 8.0.0Date: Tue Jan 28 2025
Disease Alleles: Hsap\KIF5A<Δ27.UAS> (Dme)
Source: DOID:0081379
Definition: An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).