Living with Fatty acid hydroxylase-associated neurodegeneration
A progressive nervous system condition with movement and vision problems that begin in childhood or the teen years.
Understanding Fatty acid hydroxylase-associated neurodegeneration
Changes in walking and frequent falls are usually the first signs. People gradually develop muscle stiffness (spasticity), muscle cramping (dystonia), or poor coordination (ataxia). Vision and speech can be affected, and swallowing may become hard. Some people need a wheelchair, and some have seizures or a decline in thinking skills.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Changes in walking and frequent falls
- Muscle stiffness and spasms (dystonia)
- Poor coordination (ataxia)
- Vision loss from optic nerve damage
- Unclear speech (dysarthria)
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FA2H are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Spastic Paraplegia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with NBIA Disorders Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FA2H gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: dysmyelinating leukodystrophy and spastic paraparesis; fahn; fatty acid hydroxylase associated neurodegeneration; spastic paraplegia 35
Patient organizations
- NBIA Disorders AssociationFatty acid hydroxylase-associated neurodegeneration · United States
- NBIAcureFatty acid hydroxylase-associated neurodegeneration · United States
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
You are more than your diagnosis
Perspectives from people navigating life with Fatty acid hydroxylase-associated neurodegeneration.
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