Baptista Helena, Lopes Cardoso Inês
Health Sciences Faculty, Fernando Pessoa University, Porto, Portugal.
Health Sciences Faculty, Fernando Pessoa University, Porto, Portugal.
Arch Oral Biol. 2017 Mar;75:37-47. doi: 10.1016/j.archoralbio.2016.12.008. Epub 2016 Dec 23.
Steinert syndrome, also called myotonic dystrophy type 1, is a genetic disorder with autosomal dominant transmission characterized by myotonia and a multisystemic clinical picture that affects several tissues of the human body. The most common systemic phenotypes are: muscular, cardiac, respiratory, CNS, ocular, gynecological, digestive, orthopedical, as well as cognitive and psychological symptoms (cognitive decline). Muscles involved in voluntary movement are highly affected by myotonia especially distal muscles of upper limbs. These patients also show changes in face, chewing and pharynx muscles that can lead to swallowing and speech problems, dysphagia and in most cases to food aspiration and suffocation. Poor oral hygiene resulting from reduced motor mobility and reduced saliva flux can lead to gingival inflammation and periodontal disease. Other oral manifestations include disturbances at the temporomandibular articulation, dental occlusion changes and reduction in teeth number as a result of caries. Main causes of death are pneumonia and cardiac arrhythmias. The etiopathogeny of this syndrome is still not clear, conditioning the existence of a specific treatment for this disease. Nowadays, treatments consist on the release of the existing symptoms, in an attempt to give a better life quality to patients. It is very important to implement actions that can prevent complications and consequently decrease death. Treatments should be applied in an early stage of the disease. Bronchoscopy and artificial respiration should be used to prevent pneumonia, and regular electrocardiographic monitoring should be done to evaluate defects in the conductive system. Several approaches have been applied to rehabilitate swallowing dysfunction and avoid aspiration like videofluoroscopy, postural techniques and adjustment of diet type. It is the aim of this paper to clarify the ethiology, diagnosis, systemic and oral characteristics of the syndrome, as well as to discuss treatments to be applied according to patients affected organs.
斯坦纳特综合征，也称为1型强直性肌营养不良，是一种常染色体显性遗传的基因紊乱疾病，其特征为肌强直以及影响人体多个组织的多系统临床表现。最常见的全身表型包括：肌肉、心脏、呼吸、中枢神经系统、眼部、妇科、消化系统、骨科方面的症状，以及认知和心理症状（认知能力下降）。参与自主运动的肌肉受肌强直影响很大，尤其是上肢远端肌肉。这些患者还表现出面部、咀嚼和咽部肌肉的变化，可能导致吞咽和言语问题、吞咽困难，在大多数情况下还会导致食物误吸和窒息。由于运动能力下降和唾液分泌减少导致口腔卫生不良，可能会引发牙龈炎症和牙周疾病。其他口腔表现包括颞下颌关节紊乱、牙合变化以及因龋齿导致的牙齿数量减少。主要死因是肺炎和心律失常。该综合征的病因仍不明确，这使得针对该疾病的特效治疗方法尚不存在。如今，治疗主要是缓解现有症状，试图提高患者的生活质量。采取能够预防并发症从而降低死亡率的措施非常重要。治疗应在疾病早期进行。应使用支气管镜检查和人工呼吸来预防肺炎，并定期进行心电图监测以评估传导系统缺陷。已经采用了多种方法来恢复吞咽功能障碍并避免误吸，如电视荧光吞咽造影检查、体位技术和饮食类型调整。本文旨在阐明该综合征的病因、诊断、全身和口腔特征，以及讨论根据患者受影响器官应采用的治疗方法。
