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PHARC syndrome: an overview.

Lusine Harutyunyan1,2,3, Patrick Callaerts1, Sascha Vermeer4

  • 1Laboratory for Behavioral and Developmental Genetics, Department of Human Genetics, KU Leuven, Louvain, Belgium.

Orphanet Journal of Rare Diseases
|November 5, 2024
PubMed
Summary
This summary is machine-generated.

Polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts (PHARC) is a rare genetic disease with variable symptoms. Early diagnosis and multidisciplinary care are crucial for managing PHARC patients.

Keywords:
CataractCerebellar ataxiaHearing lossPHARCPolyneuropathyRetinitis pigmentosaSystematic review

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Area of Science:

  • Genetics and rare diseases
  • Neurodegenerative disorders
  • Ophthalmology and audiology

Background:

  • PHARC is a rare, progressive, autosomal recessive neurodegenerative disease.
  • Caused by ABHD12 gene mutations, it presents heterogeneously, complicating diagnosis.
  • Pathophysiology and biochemistry remain incompletely understood.

Purpose of the Study:

  • To provide a clinical overview of PHARC patients and their mutations.
  • To outline recent research on PHARC pathophysiology.
  • To increase awareness of PHARC's heterogeneity and improve diagnosis.

Main Methods:

  • Literature review of PHARC patients and ABHD12 mutations.
  • Clinical data compilation from 58 patients across 37 families.
  • Analysis of symptom variability, age of onset, and diagnostic challenges.

Main Results:

  • Demyelinating polyneuropathy (91%), hearing loss (86%), cerebellar ataxia (74%), retinitis pigmentosa (82%), and cataracts (86%) are common.
  • Significant variability in symptom onset and severity observed.
  • Diagnosis is often delayed due to rarity and heterogeneous presentation.

Conclusions:

  • Recommend adding ABHD12 to gene panels for related symptoms.
  • Emphasize comprehensive clinical, neurological, ophthalmological, and audiological evaluations.
  • Advocate for multidisciplinary care for PHARC patients.