Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA

详细信息    查看全文

• 作者：Gitte Hedermann ; MD ; ^{hedermann@gmail.com} ; Nicoline L&oslash ; kken ; MD ^{nicoline.loekken@regionh.dk} ; Julia R Dahlqvist ; MD ^{julia.rebecka.dahlqvist@regionh.dk} ; John Vissing ; MD ; PhD ^{vissing@rh.dk}
• 关键词：Chronic progressive external ophthalmoplegia ; Dysphagia ; Mitochondrial myopathy ; Single large-scale deletion ; CPEO
• 刊名：Mitochondrion
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：32
• 期：Complete
• 页码：27-30
• 全文大小：225 K
• 卷排序：32

文摘

The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA).MethodsSixteen patients with CPEO and single LSDs of mtDNA were included in the study and compared to a control group of 12 patients with the m.3243A > G mtDNA mutation. Patients had to drink 80 ml of water at 4 °C as fast as they could (cold-water test) and fill out a standardized questionnaire about dysphagia.ResultsEight patients (50%) with CPEO and single LSDs of mtDNA had a prolonged cold-water test, including one with a PEG-tube, who was unable to perform the test, and nine patients reported subjective swallowing problems (56.3%). All mitochondrial myopathy patients in the control group had a normal duration of the cold-water test.ConclusionsThe study shows that dysphagia is a common problem in patients with CPEO and LSDs of mtDNA. Dysphagia seems to be progressive with age as abnormal swallowing occurred preferentially in persons ≥ 45 years. The study shows that increased awareness of this symptom should be given to address appropriate treatment interventions and avoid complications such as social isolation, malnutrition and aspiration pneumonia.