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Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Disease definition
This rare neurologic disease 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:171848
Classification level: Disorder- Synonym(s):
- 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
- ICD-11: LD2H.Y
- OMIM: 612674
- UMLS: C4509920
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin).
Clinical description
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.
Etiology
The disease was mapped on chromosome 20 (20p11.21-q12).
Genetic counseling
Transmission is autosomal recessive.
A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009) Greek (2009, pdf)
Detailed information
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information