帕金森氏症可加重1型强直性肌营养不良患者的吞咽困难:2例报告。

Q3 Medicine
Salvatore Stano, Andrea Barp, Ruggero Bacchin, Riccardo Zuccarino
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引用次数: 0

摘要

主干肌肉无力、疲劳和活动能力降低是1型肌强直性营养不良(DM1)的特征,也可能是锥体外系疾病患者的特征。吞咽困难在DM1和帕金森症中很常见,与其他症状相比,吞咽困难是主要症状,通常需要手术治疗。方法:我们描述了两例DM1和帕金森患者,他们因吞咽困难恶化而来到我们中心,他们表现出非常相似和特殊的临床特征。病例报告:第一位患者最初在门诊就诊,报告有7年进行性吞咽困难和运动缓慢的病史。神经学检查显示全身运动迟缓,上肢塑性僵直,弥漫性萎缩,深腱反射无力。脑和脊柱MRI扫描无明显异常,但神经生理评估显示远端肢体肌肉弥漫性肌强张性放电。基因检测证实DM1诊断(CTG范围E1)。第二例患者,由于10年的步态障碍、全身无力和吞咽困难病史,初步诊断为帕金森病。由于腰痛,在诊断为帕金森病5年后进行神经生理学研究,检测弥漫性肌强张性放电,并通过基因检测确诊DM1 (CTG范围E2)。经皮内镜胃造口术(PEG)对两名患者来说都是严重和繁重的。迄今为止,只有一例分子证实的DM1伴帕金森病已被描述。我们描述了两例DM1和帕金森症,其中吞咽功能受到肌肉状况和锥体外系疾病引发的协同效应的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1: two case reports.

Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1: two case reports.

Introduction: Weakness of trunk muscles, fatigue and reduced mobility are features of myotonic dystrophy type 1 (DM1) and may also characterize patients with extrapyramidal disorders.Dysphagia is common in DM1 and parkinsonism and can be predominant compared to other symptom, often requiring surgical tratment.

Methods: We describe two cases of patients with DM1 and parkinsonism who arrived at our Center for worsening dysphagia and who showed very similar and peculiar clinical features.

Case reports: The first patient presented initially at the outpatient clinic reporting a 7 year history of progressive difficulties in swallowing and movement slowness. Neurologic examination showed a general bradykinesia, plastic rigidity of upper limbs, diffuse hypotrophy and deep tendon reflexes weakness. MRI scan of brain and spine was unremarkable, but neurophysiological evaluation revealed diffuse myotonic discharges on distal limb muscles. Genetic testing confirmed DM1 diagnosis (CTG range E1).The second patient, presented with an initial diagnosis of parkinsonism due to a 10 years history of gait impairment, generalized weakness and dysphagia. Due to low back pain a neurophysiological study was performed after 5 years from diagnosis of parkinsonism detecting diffuse myotonic discharges and genetic testing confirmed diagnosis of DM1 (CTG range E2).Percutaneous endoscopic gastrostomy (PEG) was severe and burdensome for both patients.To date, only one case of molecularly confirmed DM1 along with parkinsonism has been described. We have described two cases of DM1 and parkinsonism in which swallowing function has been affected by a synergic effect triggered by both muscle condition and extrapyramidal disease.

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来源期刊
Acta Myologica
Acta Myologica Medicine-Cardiology and Cardiovascular Medicine
CiteScore
3.70
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0.00%
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