FAHN

Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN)

GENE: FA2H;
INHERITANCE: Autosomal recessive;
ONSET: Childhood;
SYMPTOMS: Ataxia, dystonia, cognitive decline, and spasticity;
NOTES: FAHN presents with movement disorders, optic atrophy, and high brain iron.

Overview

FAHN is a rare, inherited neurological disorder characterized by progressive movement difficulties and abnormal iron accumulation in the brain. Symptoms often begin in childhood or early adolescence and may include a combination of motor, cognitive, and visual impairments.

Genetics

FAHN is inherited in an autosomal recessive pattern. This means that an affected individual inherits two copies of the mutated gene-one from each parent. The condition is caused by mutations in the FA2H gene, which encodes fatty acid 2-hydroxylase, an enzyme important for maintaining healthy myelin, the protective coating around nerve fibers. Mutations disrupt normal myelin and lead to neurodegeneration.

Symptoms

Symptoms vary in severity and may include:

Ataxia (loss of balance and coordination)
Dystonia (involuntary muscle contractions)
Spasticity (stiff or rigid muscles)
Cognitive decline in some cases
Optic atrophy or retinal degeneration, leading to vision problems

Diagnosis

Diagnosis of FAHN relies on:

Clinical evaluation, including assessment of movement and developmental milestones
MRI showing characteristic brain changes, including iron accumulation and white matter abnormalities
Genetic testing for FA2H mutations

Early diagnosis allows families to access supportive therapies and genetic counseling.

Management

There is no cure for FAHN. Treatment focuses on managing symptoms and improving quality of life:

Medications to reduce dystonia and spasticity
Physical and occupational therapy to maintain mobility and function
Speech therapy if articulation or swallowing is affected
Supportive care for cognitive or vision-related challenges

Resources

1. NBIA Disorders Association – FAHN.
2. Childhood Dementia Organization.
3. Genetic counseling and testing resources.