Refsum disease
Synonyms: Adult Refsum disease | 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
A metabolic disease characterized by anosmia cataract early-onset retinitis pigmentosa and possible neurological manifestations including peripheral neuropathy and cerebellar ataxia. Other features can be deafness ichthyosis skeletal abnormalities and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Ducks For Dementia
Ducks For Dementia, founded on the profound compassion and vision of a young boy named David, aims to bring solace and understanding to individuals with dementia and their families. Our mission is rooted in the distribution of toy ducks as symbols of comfort, which serve not only as therapeutic aids but also as beacons of joy and companionship for those navigating the complexities of dementia.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
Clinical Trials
For a list of clinical trials in this disease area, please click here.