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Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
ORPHA:171848Classification level: Disorder
- PHARC syndrome
- Peripheral neuropathy, Fiskerstrand type
- Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: G60.1
- OMIM: 612674
- UMLS: C2675204
- MeSH: -
- GARD: -
- MedDRA: -
The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin).
The disease manifests during childhood with pes cavus and tendoachilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal.
Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12).