FCS (DCM)- Artigos em Revistas Científicas Internacionais com Arbitragem Científica
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Browsing FCS (DCM)- Artigos em Revistas Científicas Internacionais com Arbitragem Científica by Author "Baptista, Helena"
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- Myotonic dystrophy type 1 (DM1) and speech problemsPublication . Cardoso, Inês Lopes; Baptista, HelenaMyotonic Dystrophy type 1(DM1), also called Steinert syndrome, is a multisystemic disorder transmitted in an autosomal dominant manner, characterized by myotonia. Muscles involved in voluntary movement are highly affected by myotonia especially distal muscles of upper limbs. Patients with DM1 present a myopathic face and oropharynx weakness. Reduced motor mobility and saliva flux can lead to gingival inflammation and periodontal disease together with other oral manifestations like disturbances at the temporomandibular articulation. Main causes of death are pneumonia and cardiac arrhythmias. Although the etiology of this syndrome is well known, a specific treatment for this disease is still not available. Nowadays, treatments consist on the relief of 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 this is why treatments should be applied in an early stage of the disease. It is the aim of this paper to clarify the etiology, systemic characteristics of the syndrome and in particular discuss how myotonia can lead to speech disturbances and present strategies to deal with this particular problem.
- Steinert syndrome and repercussions in dental medicinePublication . Baptista, Helena; Cardoso, Inês LopesSteinert 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.