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Refsum disease

ORPHA773
Synonym(s) HMSN 4
Hereditary motor and sensory neuropathy type 4
Heredopathia atactica polyneuritiformis
Phytanic acid oxidase deficiency
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Childhood
Adolescent
Adult
ICD-10
  • G60.1
OMIM
UMLS
  • C0034960
MeSH
  • D012035
MedDRA
  • 10038275

Summary

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia,early-onset retinitis pigmentosa (see this term) and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


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Detailed information

Practical genetics
  • EN (2013,pdf)
Article for general public
  • EN (2013)
  • FR (2013,pdf)
Clinical genetics review
  • EN (2010)
Disability factsheet
  • FR (2014,pdf)
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.