Refsum disease
Ataxia/CerebellarAdult-onset
W
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Overview
From WUSTL Neuromuscular● Demyelinating Polyneuropathy Ataxia Eye: Pigmentary Retinal degeneration Skin: Ichthyosis Skeletal: 4th metacarpal shortening Deafness Cardiac failure Treatment Dietary: Phytanic Acid Restriction
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.