Myotonic dystrophy type 1 (DM1) and speech problems

Detalhes bibliográficos
Autor(a) principal: Cardoso, Inês Lopes
Data de Publicação: 2017
Outros Autores: Baptista, Helena
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10284/8600
Resumo: Myotonic 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.
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spelling Myotonic dystrophy type 1 (DM1) and speech problemsMyotonic dystrophySteinert diseaseSpeech problemsLip force in DM1Tongue pressure in DM1Muscular weakness and dysarthria in DM1Myotonic 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.Repositório Institucional da Universidade Fernando PessoaCardoso, Inês LopesBaptista, Helena2020-03-03T15:37:43Z2020-02-28T16:22:01Z2017-01-01T00:00:00Z2017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10284/8600engcv-prod-368716info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-06T02:07:58Zoai:bdigital.ufp.pt:10284/8600Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:45:28.768655Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Myotonic dystrophy type 1 (DM1) and speech problems
title Myotonic dystrophy type 1 (DM1) and speech problems
spellingShingle Myotonic dystrophy type 1 (DM1) and speech problems
Cardoso, Inês Lopes
Myotonic dystrophy
Steinert disease
Speech problems
Lip force in DM1
Tongue pressure in DM1
Muscular weakness and dysarthria in DM1
title_short Myotonic dystrophy type 1 (DM1) and speech problems
title_full Myotonic dystrophy type 1 (DM1) and speech problems
title_fullStr Myotonic dystrophy type 1 (DM1) and speech problems
title_full_unstemmed Myotonic dystrophy type 1 (DM1) and speech problems
title_sort Myotonic dystrophy type 1 (DM1) and speech problems
author Cardoso, Inês Lopes
author_facet Cardoso, Inês Lopes
Baptista, Helena
author_role author
author2 Baptista, Helena
author2_role author
dc.contributor.none.fl_str_mv Repositório Institucional da Universidade Fernando Pessoa
dc.contributor.author.fl_str_mv Cardoso, Inês Lopes
Baptista, Helena
dc.subject.por.fl_str_mv Myotonic dystrophy
Steinert disease
Speech problems
Lip force in DM1
Tongue pressure in DM1
Muscular weakness and dysarthria in DM1
topic Myotonic dystrophy
Steinert disease
Speech problems
Lip force in DM1
Tongue pressure in DM1
Muscular weakness and dysarthria in DM1
description Myotonic 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.
publishDate 2017
dc.date.none.fl_str_mv 2017-01-01T00:00:00Z
2017-01-01T00:00:00Z
2020-03-03T15:37:43Z
2020-02-28T16:22:01Z
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10284/8600
url http://hdl.handle.net/10284/8600
dc.language.iso.fl_str_mv eng
language eng
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dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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