Living with ASAH1-related sphingolipidosis
A group of genetic conditions caused by changes in the ASAH1 gene, including Farber disease.
Understanding ASAH1-related sphingolipidosis
The group includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene makes an enzyme in the lysosomes (cell recycling centers) that breaks down a fat called ceramide.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in ASAH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the ASAH1 gene cause these conditions. The gene makes the enzyme that breaks down the fat ceramide.
Also known as: asah1-related disorders
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with ASAH1-related sphingolipidosis.
Explore research for ASAH1-related sphingolipidosis
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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