You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Phytanic acid storage disease, look for clinical trials, and connect with others living with it — all in one place.
Open the full Phytanic acid storage disease hub →Phytanic acid storage disease is a rare condition. Also known as Classic Refsum disease, HMSN 4, HMSN IV, Hereditary motor and sensory neuropathy type 4, Hereditary motor and sensory neuropathy type IV, Heredopathia atactica polyneuritiformis, Phytanic-CoA hydroxylase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Phytanic acid storage disease so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:773 · OMIM 266500, 614879 · ICD-10 G60.1 · GARD 0005691
Start by learning the basics from an authoritative source, find a specialist or center that sees Phytanic acid storage disease, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Phytanic acid storage disease, filtered to your area.
Tomeko shows live, recruiting studies for Phytanic acid storage disease from ClinicalTrials.gov on the hub.