Gastrointestinal Symptoms in Myotonic Dystrophy

RESUMO -Apresentamos vinte pacientes com distrofia miotônica de Steinert, avaliados entre 1995 e 1999, pela análise fonoaudiológica e nasofibrolaringoscópica, com o objetivo de analisar e classificar as alterações da deglutição orofaríngea e funções do sistema estomatognático e considerar os fatores preditivos. A idade dos pacientes variou de 12 a 53 anos; 13 eram do sexo masculino e 7 do feminino. Os principais achados foram: (1) há relação estatisticamente significante entre avaliação fonoaudiológica e nasofibrolaringoscópica; (2) foram observadas alterações do sistema estomatognático, em 100% dos casos; (3) foram registradas alterações de deglutição em 95% dos pacientes, à avaliação fonoaudiológica, e em 70%, à nasofibrolaringoscopia; (4) os pacientes têm maior dificuldade para deglutir alimentos consistentes; (5) os músculos estomatognáticos muito alterados, desordem da fase faringeal, tosse após deglutição, antecedentes de pneumonia e queixas de mastigação/ deglutição apresentaram correlação estatisticamente significante com maior gravidade da doença. Foram avaliadas, estática e funcionalmente, estruturas envolvidas na dinâmica da deglutição. Esta avaliação deve constar da rotina do atendimento aos pacientes com distrofia miotônica de Steinert.PALAVRAS-CHAVE: deglutição, endoscopia, doenças musculares, distrofia miotônica de Steinert. Oropharyngeal dysphagia in the myotonic dystrophy: phonoaudiological evaluation and nasofibrolaryngoscopical analysis.ABSTRACT -We herein present twenty myotonic dystrophy of Steinert patients with the main objective to evaluate and classify the oropharyngeal swallowing by the phonoaudiological clinical and nasofibrolaryngoscopical analysis. The age of the patients varied from 12 to 53 years, being 13 male and 7 female. The mean data: (1) statistically significant relation between the phonoaudiological clinical evaluation and nasofibrolaryngoscopical one; (2) stomatognatical system disorders present in 100%; (3) swallowing disorders present in 95%, when clinically evaluated, and in 70% when evaluated by the nasofibrolaryngoscopy; (4) higher difficulty to swallow consistent feed; (5) stomatognatical muscles very altered, pharyngeal phase disorders, cough after swallowing, antecedents of pneumonia and complaints of chewing/swallowing presented statistically significant correlation with severity of the sickness. The analysis were able to evaluate statical and functionally the involved structures in the swallowing, having got to take part of the rotine of attendance to the patients with myotonic dystrophy of Steinert.KEY WORDS: swallowing, endoscopy, muscle diseases, myotonic dystrophy of Steinert. A distrofia miotônica de Steinert (DMS) é a forma mais frequente das distrofias musculares, de iní-cio na idade adulta, merecendo uma atenção multiprofissional especial. A prevalência é de aproximadamente 4/100.000 1 . Trata-se de doença multissistêmica de herança autossômica dominante, decorrente de expansão do triplo CGT no braço longo do cromossomo 19. Observa-se ainda o fenômeno da ...

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“…Tais alterações são frequentemente relatadas na literatura 6,10,13,14,16,[20][21][22][23][24][25][26] .…”

Section: Discussionunclassified

Disfagia orofaríngea na distrofia miotônica: avaliação fonoaudiológica e análise nasofibrolaringoscópica

Chiappetta

Oda

Zanoteli

et al. 2001

Arq. Neuro-Psiquiatr.

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“…Since a main stimulus for GLP-1 secretion is activation of L-cells from the luminal side of the gut (30), the augmented increase in GLP-1 after oral glucose in DM1 may be due to accelerated gastric emptying and/ or intestinal motility (31). This would allow the glucose load to reach the GLP-1-producing cells in jejunum faster and in a greater concentration.…”

Section: Discussionmentioning

confidence: 99%

Abnormal release of incretins and cortisol after oral glucose in subjects with insulin-resistant myotonic dystrophy

Johansson

Olsson²,

Cederquist³

et al. 2002

European Journal of Endocrinology

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Objective: Although the incretins, gastric inhibitory polypeptide (GIP) and glucagon-like peptide-1 (GLP-1), as well as glucagon and cortisol, are known to influence islet function, the role of these hormones in conditions of insulin resistance and development of type 2 diabetes is unknown. An interesting model for the study of hormonal perturbations accompanying marked insulin resistance without concomitant diabetes is myotonic dystrophy (DM1). Design: The work was carried out in an out-patient setting. Methods: An oral glucose tolerance test was performed in 18 males with DM1 and 18 controls to examine the release of incretins and counter-regulatory hormones. Genetic analyses were also performed in patients. Results: We found that the increment in GLP-1 after oral glucose was significantly greater in patients, while there was no significant difference in GIP or glucagon responses between patients and controls, although long CTG repeat expansions were associated with a more pronounced GIP response. Interestingly, the GLP-1 response to oral glucose correlated with the insulin response in patients but not in controls whereas, in controls, the insulin response closely correlated with the GIP response. Furthermore, cortisol and ACTH levels increased paradoxically in patients after glucose; this was more pronounced in patients with long CTG repeat expansions. Conclusions: This study showed that the GLP-1 and ACTH/cortisol responses to oral glucose are abnormal in insulin-resistant DM1 patients and that CTG triplet repeats are linked to GIP release. These abnormalities may contribute both to the severe insulin resistance and hyperinsulinemia in DM1 and to the preservation of adequate islet function, enabling glucose tolerance to be normal in spite of this marked insulin resistance in DM1.

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“…Symptoms suggestive of gastroparesis, such as early satiety, nausea, vomiting, and epigastric pain, are common in myotonic dystrophy. 91,92 Of these, abdominal pain, dysphagia, vomiting, diarrhea, coughing while eating, and fecal incontinence were the most common in one survey 92 ; up to 25% of patients consider gastrointestinal involvement as the most disabling feature of their disease. 93 Delayed gastric emptying and gastroparesis have indeed been well documented, [94][95][96] and instances of gastric volvulus described.…”

Section: Muscle Diseasementioning

confidence: 98%

Other Forms of Gastroparesis

Quigley

2015

Gastroenterology Clinics of North America

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Gastrointestinal Symptoms in Myotonic Dystrophy

Abstract: GI symptoms are common in patients with MD, may be the initial symptoms, and are often considered to be the most disabling consequence of the disease.

Cited by 69 publications

References 15 publications

Disfagia orofaríngea na distrofia miotônica: avaliação fonoaudiológica e análise nasofibrolaringoscópica

Disfagia orofaríngea na distrofia miotônica: avaliação fonoaudiológica e análise nasofibrolaringoscópica

Abnormal release of incretins and cortisol after oral glucose in subjects with insulin-resistant myotonic dystrophy

Other Forms of Gastroparesis

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