دورية أكاديمية
Oculopharyngeal myopathy with sensorineural hearing loss.
| العنوان: | Oculopharyngeal myopathy with sensorineural hearing loss. |
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| المؤلفون: | Alusi GH; Department of Otolaryngology and Head and Neck Surgery, Royal Free Hospital, London, UK., Grant WE, Quiney RE |
| المصدر: | The Journal of laryngology and otology [J Laryngol Otol] 1996 Jun; Vol. 110 (6), pp. 567-9. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Cambridge University Press Country of Publication: England NLM ID: 8706896 Publication Model: Print Cited Medium: Print ISSN: 0022-2151 (Print) Linking ISSN: 00222151 NLM ISO Abbreviation: J Laryngol Otol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Cambridge : Cambridge University Press Original Publication: London : Headley Brothers, |
| مواضيع طبية MeSH: | Pharyngeal Muscles*, Blepharoptosis/*genetics , Hearing Loss, Sensorineural/*genetics , Ophthalmoplegia/*genetics, Audiometry, Pure-Tone ; Blepharoptosis/etiology ; Blepharoptosis/pathology ; Deglutition Disorders/etiology ; Deglutition Disorders/genetics ; Deglutition Disorders/pathology ; Genes, Dominant ; Hearing Loss, Sensorineural/complications ; Hearing Loss, Sensorineural/pathology ; Humans ; Male ; Middle Aged ; Muscular Diseases/complications ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; Ophthalmoplegia/complications ; Ophthalmoplegia/pathology ; Pedigree ; Syndrome |
| مستخلص: | A case is reported of a 59-year-old Caucasian male with oculopharyngeal myopathy and sensorineural hearing loss. He presented with progressive ptosis, sensorineural hearing loss over several years and symptoms of mild dysphagia. Further enquiry into his family history revealed that every male member in his family that lived beyond the age of 60 exhibited identical symptoms. Symptoms of ptosis and dysphagia are consistent with the rare autosomal dominant condition of oculopharyngeal myopathy, believed to be due to mitochondrial disease. The combination of ptosis, dysphagia and sensorineural hearing loss with normal distant muscle group biopsy has not been described before. |
| تواريخ الأحداث: | Date Created: 19960601 Date Completed: 19961015 Latest Revision: 20190724 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1017/s0022215100134280 |
| PMID: | 8763380 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0022-2151 |
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| DOI: | 10.1017/s0022215100134280 |