Living with Phytanic acid storage disease
An inherited condition (Refsum disease) with vision loss, loss of smell, and nerve and muscle problems.
Understanding Phytanic acid storage disease
The vision loss comes from an eye disorder called retinitis pigmentosa. Other features can include bone differences in the hands and feet, muscle weakness and wasting, poor balance and coordination (ataxia), hearing loss, heart rhythm and heart problems, and dry, scaly skin (ichthyosis). It can start anywhere from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vision loss from retinitis pigmentosa
- Loss of smell
- Poor balance and coordination (ataxia)
- Hearing loss
- Dry, scaly skin (ichthyosis)
- Heart muscle disease (cardiomyopathy)
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation Fighting Blindness, Global DARE Foundation and National Ataxia 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); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation Fighting Blindness, Global DARE Foundation, National Ataxia 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 Foundation Fighting Blindness 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 PHYH gene or the PEX7 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: adult refsum disease; adult refsum disease due to phyh; classic refsum disease; hereditary motor and sensory neuropathy 4; hereditary motor and sensory neuropathy type 4; hereditary motor and sensory neuropathy type iv
Patient organizations
- Foundation Fighting BlindnessPhytanic acid storage disease · United States
- Global DARE FoundationPhytanic acid storage disease · United States
- National Ataxia FoundationAtaxia · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Phytanic acid storage disease.
Explore research for Phytanic acid storage disease
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