What is FAHN?

Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN), also known as Fatty Acid 2-Hydroxylase Deficiency, is a disorder that targets the central nervous system, specifically when it comes to movement and vision. The disease first appears during childhood or adolescence and will progressively worsen over time.

What Are the Symptoms of FAHN?

Since FAHN involves the nervous system, the majority of symptoms involve our motor functions and vision. Such symptoms include:

  • Frequent falls
  • Muscle stiffness and cramping
  • Exaggerated reflexes
  • Changes in a person’s gait
  • Poor coordination and/or balance
  • Impaired color perception
  • Involuntary eye movement
  • Difficulty moving eyes
  • Decreased field of vision
  • Loss of sharp vision
  • Speech impairment
  • Difficulty chewing or swallowing
  • Seizures

How Do You Get FAHN?

FAHN is caused by a mutation in the FA2H gene that is inherited through an autosomal recessive pattern (both parents must be carriers). This gene is responsible for providing your body instructions on making an enzyme called fatty acid 2-hydroxylase. This enzyme is crucial for your body to develop myelin, the protective covering for nerve cells. With the FAH2 mutation, the fatty acid 2-hydroxylase enzyme is not produced, resulting in a deterioration of myelin in the brain.

How is FAHN diagnosed?

FAHN can be diagnosed by an MRI or genetic testing. An MRI will search for iron accumulation on the brain, while genetic testing will check for the FA2H mutation in a person’s DNA.

Is There a Treatment for FAHN?

Currently, there is no cure for FAHN, but symptoms can be managed to improve a person’s quality of life. Physical therapy, deep brain stimulation, and a variety of medications can all be administered to help someone living with FAHN.

Helpful Resources

National Institute of Health

NBIAcure

NBIA Disorders Association