[4] The ASAH1 gene is also known to cause a condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).

[10][11] Diagnosis is confirmed by molecular genetic testing of the ASAH1 gene or by measuring acid ceramidase enzyme activity.

Anti-inflammatory medications, specifically tocilizumab (an interleukin-6 receptor inhibitor), has been shown to improve inflammation and pain in some patients.

[12] Bone marrow transplant may improve granulomas (small masses of inflamed tissue) and inflammation in patients with little or no lung or nervous system complications.

[citation needed] Studies in cells and mice have shown proof-of-concept for enzyme replacement therapy for Farber disease.

[14] Aceragen, a biopharmaceutical company, is currently developing an investigational enzyme replacement therapy with a clinical study planned for late 2022.

[citation needed] Children with the most severe forms of Farber disease generally die by age 2–3 years.