Fatty acid hydroxylase-associated neurodegeneration

Fatty acid hydroxylase-associated neurodegeneration (FAHN disease) is a very rare inherited brain disorder that belongs to a group of conditions called neurodegeneration with brain iron accumulation (NBIA). It is caused by changes (mutations) in the FA2H gene, which provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme is important for making certain fats that protect nerve cells in the brain and spinal cord. When this enzyme does not work properly, iron builds up in specific areas of the brain, and the protective coating around nerves (called myelin) breaks down over time. FAHN disease typically begins in childhood, often between ages 3 and 11. Early symptoms usually include difficulty walking, leg stiffness (spasticity), and problems with balance and coordination (ataxia). As the disease progresses, children may develop involuntary muscle contractions (dystonia), difficulty speaking (dysarthria), trouble swallowing, vision problems, and seizures. Thinking and learning abilities may also decline over time. Some patients develop eye abnormalities such as optic atrophy or strabismus (crossed eyes). Currently, there is no cure for FAHN disease, and treatment focuses on managing symptoms and improving quality of life. Medications may help with spasticity, dystonia, and seizures. Physical therapy, occupational therapy, and speech therapy are important parts of care. Research is ongoing to better understand this condition and develop new treatments.

Bring these to your next appointment

• Q1.What stage of the disease is my child in, and what changes should we expect over the next few years?,What therapies and medications are recommended right now to manage symptoms?,Are there any clinical trials or research studies that my child might be eligible for?,How often should we schedule follow-up visits and with which specialists?,What should we do if my child has a seizure or a choking episode at home?,When should we consider assistive devices like a wheelchair or communication aids?,Should other family members be tested to see if they carry the FA2H gene change?

Common questions about Fatty acid hydroxylase-associated neurodegeneration