This is a part of an awareness-driving initiative to help families who may be living with Farber disease. If you believe you or your loved one have the symptoms of Farber or have been diagnosed with Farber, please get in contact with our team at

A recent literature search by Yu et al. identified 158 Farber cases published since 1952 (1).

As a very rare genetic disease with patients spread out around the world, Farber disease is not always recognized by doctors and is often misdiagnosed as a form of arthritis.

Mutations in a gene (called the ASAH1 gene) mean that a faulty enzyme (called the acid ceramidase enzyme) is produced and this prevents a material (called ceramide) in the cell from being broken down, causing reactions in many parts of the body.

When this happens, cardinal symptoms appear, usually within the first years of a child's life.

These symptoms include joint disease (arthritis or contractures), subcutaneous nodules (bumps under the skin), and a hoarse or weak voice because of nodules on the voice box.

It may take a long time for all the typical symptoms to appear together, and they may vary greatly in severity.

Those living with Farber disease may also have symptoms like generalized inflammation (fever), severe pain, peripheral osteolysis (gradual loss of bone in certain areas), failure to thrive, and developmental delay.

In addition to causing Farber disease, a mutation in the ASAH1 gene can also lead to a severe neurological disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).

It may take years for all three cardinal symptoms of Farber disease – a hoarse voice, joint contractures, and nodules under the skin – to appear together.

Farber disease is progressive and severe. Current treatments are designed to help manage the symptoms of the disease and increase the quality of the patient’s life.

Aceragen is currently developing an investigational treatment specifically targeted at the cause of the disease. Their solution involves the replacement of the faulty enzyme that causes the symptoms of the disease.

While Farber disease does not yet have a proven treatment, Aceragen is currently developing an investigational therapy specifically targeted at the cause of the disease.

If you think your child may have Farber disease symptoms, please consult your health care provider for more information.

Additionally, please contact the Aceragen team at Additionally, please consider visiting and joining our patient community at:

We may be able to help connect you to a variety of resources, including more information about Farber disease, diagnostic genetic testing, Aceragen research, patient community resources, and more.

  1. Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA- PME. Orphanet J Rare Dis. 2018 Jul 20;13(1):121.

  2. ASAH1-Related Disorders (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders). 2021.
    Available at:

  3. Yeager A, Armfield Uhas K, Coles C, Davis P, Krause W, Moser H. Bone marrow transplantation for infantile ceramidase deficiency (Farber disease). Bone Marrow Transplantation. 2000.