Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong
| Autor: | K H Fu, Tony M F Tong, Colin Ht Lui, HM Luk, Daniel H C Chan, Stephen T.S. Lam, Ivan F M Lo |
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| Rok vydání: | 2013 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics Proximal muscle weakness Disease Poly(A)-Binding Protein I Oculopharyngeal muscular dystrophy Muscular Dystrophy Oculopharyngeal Ptosis PABPN1 gene medicine Blepharoptosis Humans Family history Muscle biopsy medicine.diagnostic_test business.industry General Medicine Middle Aged medicine.disease Dysphagia Physical therapy Hong Kong medicine.symptom Deglutition Disorders business |
| Zdroj: | Hong Kong Medical Journal. :556-559 |
| ISSN: | 1024-2708 |
| Popis: | Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed disease, especially among the Chinese. In the presence of a positive family history and late-onset ptosis, dysphagia, and proximal muscle weakness (its cardinal features), we suggest that PABPN1 gene analysis should be the first-line investigation to rule out this condition. Muscle biopsy can be reserved for atypical cases. Non-specific mitochondrial changes in the muscle specimens of these patients should be appreciated, so as to avoid diagnostic confusion. It is hoped that greater awareness among medical professionals and judicious use of PABPN1 gene analysis will lead to earlier diagnosis, better management, and avoidance of unnecessary invasive investigations of affected patients. |
| Databáze: | OpenAIRE |
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