amyotrophic lateral sclerosis type 25

Term ID

DOID:0081379

Synonyms

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). https://pubmed.ncbi.nlm.nih.gov/29566793/

References

• MIM:617921

Ontology

Human Disease   ( DOID:0081379 )