Steinert syndrome and repercussions in dental medicine

Abstract

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 severaltissues 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.