Symptoms of Refsum Disease
General information about symptoms of Refsum Disease: The symptom information on this page attempts to provide a list of some possible symptoms of Refsum Disease. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Refsum Disease. Furthermore, symptoms of Refsum Disease may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Refsum Disease.
List of symptoms of Refsum Disease: The list of symptoms mentioned in various sources for Refsum Disease includes:
- Vision impairments
- Retinitis pigmentosa
- Peripheral neuropathy
- Ataxia
- Impaired hearing
- Bone changes
- Skin changes
- Nystagmus (involuntary eye movements)
- Anosmia (absence of the sense of smell)
- Ichthyosis
Symptoms of Refsum Disease: Symptoms of the disorder may include vision impairments (retinitis pigmentosa), peripheral neuropathy, ataxia (impaired muscle coordination), impaired hearing, and bone and skin changes. Nystagmus (rapid, involuntary to-and-fro eye movements), anosmia (absence of the sense of smell), and ichthyosis (a skin disorder causing dry, rough, scaly skin) may also occur. 1
More symptoms of Refsum Disease: In addition to the above information, to get a full picture of the possible symptoms of this condition and its related conditions, it may be necessary to examine symptoms that may be caused by complications of Refsum Disease, underlying causes of Refsum Disease, associated conditions for Refsum Disease, risk factors for Refsum Disease, or other related conditions.
Medical articles on symptoms: These general reference articles may be of interest:
Footnotes:
1. excerpt from NINDS Refsum Disease Information Page: NINDS
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