Farber Disease | Common Symptoms | Treatment and Management | Genetics
DNA is the genetic information in our body that gives instructions for how the body grows and functions. This information is packaged into genes. Genes are inherited from parents and give instructions to cells. There are two copies of the ASAH1 gene in every cell of the body; one copy each is received from each parent. If the genes have a pathogenic variant, or mutation, the instructions may be missing or not work correctly, and this may cause a genetic disease.
Farber disease is an ultra-rare autosomal recessive genetic condition caused by pathogenic variants in the ASAH1 gene.
This means:
A genetic counselor or geneticist may help families obtain a diagnosis or learn more if an ASAH1 variant is suspected. Genetic counselors can help individuals and families make informed decisions by sharing information on the nature, inheritance patterns, and implications of genetic disorders.
ASAH1 variants make it difficult for acid ceramidase enzymes to work like they should, which leads to complications and symptoms of Farber disease.
Farber disease is part of a group of disorders that are characterized by pathogenic variants in the ASAH1 gene. A related condition is Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME)2.
People living with Farber disease and SMA-PME have the same enzyme deficiency but the first symptoms that appear may be different. With either diagnosis, the ASAH1-related condition may progress, resulting in “overlapping” symptoms that impact a broad range of organ systems throughout the body3.
Most common first symptoms:
References
1 Farber disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov.
2 Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, CastroGiner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet. 2012 Jul 13;91(1):5-14. PMID: 22703880.
3 Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet Journal of Rare Diseases. 2018;13(1). doi:10.1186/s13023-018-0845-z.