Other names: heredopathia atactica polyneuritoformis;phytanic acid storage disease
OMIM:266500
Inheritance: autosomal recessive
Incidence: very rare
Key findings: neurologic findings usually precede skin findings
- skin: generalized, flat, dark scales of varying severity and extent
Associated findings:
- neurologic: cerebellar ataxia, peripheral neuropathy
- eyes: progressive visual loss
- ears: progressive hearing loss
- heart: arrhythmias
Age at first appearance: neurologic findings usually detected during the first or second decade; skin findings usually later
Long-term course: onset is insidious; neurologic changes progressive but vary with diet; reduced life-expectancy
Diagnostic tests: biochemical measurements on blood or skin cells; analysis of cellular DNA
Abnormal gene: phytanyl CoA hydroxylase
