Basic Summary for Refsum Disease
Main name of condition: Refsum Disease
Other names or spellings: Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis
What is Refsum Disease?
Brief description of Refsum Disease: Genetic disease affecting nerve and muscle control.
Parent types of Refsum Disease: Leukodystrophies, Muscle conditions, Brain conditions, Genetic Disease
Organs Affected by Refsum Disease: brain, nerves, muscle
Types of Refsum Disease: Infantile Refsum Disease
Who gets Refsum Disease?
Patient Profile for Refsum Disease: Usually by 20, but from childhood to 50 is possible.
Profile for Refsum Disease: Onset of Refsum disease varies from early childhood to age 50, however, symptoms usually appear by age 20. The disorder affects both males and females. 1
How serious is Refsum Disease?
Prognosis of Refsum Disease: The prognosis for individuals with Refsum disease varies. With treatment, symptoms of peripheral neuropathy and ichthyosis generally disappear. However, treatment cannot undo the damage to vision and hearing. 1
What causes Refsum Disease?
Cause of Refsum Disease: Accumulation of phytanic acid in body tissues.
Class of Condition for Refsum Disease: genetic
What are the symptoms of Refsum Disease?
Symptoms of Refsum Disease: see symptoms of Refsum Disease
Can anyone else get Refsum Disease?
Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
How is it treated?
Treatments for Refsum Disease: see treatments for Refsum Disease
Footnotes:
1. excerpt from NINDS Refsum Disease Information Page: NINDS
Medical Tools & Articles:
Next articles:
Medical Articles: