Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The phenotype of DM2 shows similarities as well as differences to that of Myotonic Dystrophy type 1 (DM1). Gastrointestinal dysfunction is common in DM1 and 25% of the patients consider this to be the most disabling consequence of the disease. Little is known about gastrointestinal involvement in Myotonic Dystrophy type 2 (DM2). The aim of the study was to explore the occurrence and characteristics of gastrointestinal symptoms in patients with DM2. This was compared to symptoms in adult-onset DM1 patients, and to age- and sex-matched healthy controls. Twenty-nine genetically proven DM2 patients filled out two standardized questionnaires about gastrointestinal symptoms; most important outcome measures were answers to questions about dysphagia, abdominal pain, and constipation. The results were compared to those of 29 adult-onset DM1 patients, and to 87 age- and sex-matched healthy controls. Radiological measurement of colon transit time was investigated in 18 DM2 patients. Dysphagia for liquids (38%) and solid food (41%), abdominal pain (62%), and constipation (62%) were all significantly more common among DM2 patients than among healthy controls, and comparable to their occurrence in DM1. Colon transit time was increased in 24% of the DM2 patients. Our results show that gastrointestinal symptoms are highly prevalent in DM2 patients. Gastrointestinal dysfunction may be attributed to any part of the gastrointestinal tract. The results provide new insight into the clinical picture of DM2.
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PMID:Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2. 1860 28

The phenotype of myotonic dystrophy type 2 (DM2) shows similarities as well as differences to that of myotonic dystrophy type 1 (DM1). Dysphagia, a predominant feature in DM1, has not yet been examined in DM2. In a recent nationwide questionnaire survey of gastrointestinal symptoms in DM2, 12 out of 29 DM2 patients reported to have difficulty in swallowing for solid food. The aim of the study was to investigate the presence of dysphagia in patients with genetically proven DM2 who reported difficulty in swallowing for solid food at the questionnaire survey. Swallowing function and fiberoptic endoscopic evaluation of swallowing (FEES) were examined by a speech therapist and otorhinolaryngologist, respectively. In DM2 patients who reported difficulty in swallowing the presence of dysphagia could be confirmed (clinically in 100%, by FEES in 88%). A correlation exists between Dysphagia Outcome and Severity Score (DOSS) and age (p=0.05). None of the patients was underweight, and none of the patients had suffered aspiration pneumonia in the past. Dysphagia is present among DM2 patients and is more severe in older patients. However, dysphagia is generally mild, and do not lead to weight loss, or aspiration pneumonia.
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PMID:Dysphagia is present but mild in myotonic dystrophy type 2. 1916 24

Myotonic dystrophy (DM1) is the most prevalent muscular dystrophy occurring in adulthood. DM1 is a multi-systemic disorder resulting in early-onset cataracts, cardiac rhythm problems, muscle weakness, ptosis, and cognitive and psychiatric manifestations. Dysphagia is one of the most problematic symptoms of DM1 because it may cause weight loss, aspiration pneumonias or sudden death. The purpose of this review is to describe the characteristics of DM1 that make dysphagia management problematic, and to address the need for disease-specific guidelines and a clinical tool to aid in diagnosing and managing dysphagia in this population.
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PMID:Myotonic dystrophy (DM1) and dysphagia: the need for dysphagia management guidelines and an assessment tool. 2156 Aug 85

Insulin resistance is a characteristic feature of glucose intolerance in myotonic dystrophy type 1 (DM1). DM1 patients with dysglycaemia have liver insulin resistance as well as muscle insulin resistance, and also abnormality of insulin secretion. Insulin resistance in DM1 might result in multiple metabolic defects. Low level of fasting plasma glucose is a characteristic feature in the early stage of glucose intolerance in DM1, Early intervention against insulin resistance in DM1 is suggested because glucose intolerance could deteriorate in a certain degree of cases. Metformin treatment is useful to improve insulin resistance in DM1. Diabetic patients with DM1 usually show mild hyperglycemia. However, poorly controlled patients with hyperglycemic pattern tending to rise from morning to evening exist. Intensive insulin therapy might be necessary in such cases. We should pay attention to hypoglycemia due to hyperinsulinemia, pseudo improvement of glucose control according to exacerbated dysphagia, and acute aggravation caused by infections, at a bedside.
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PMID:[Glucose intolerance in myotonic dystrophy type 1]. 2319 82

Oropharyngeal dysphagia and esophageal motility disorders were found to be the most important causes of aspiration pneumonia in patients with myotonic dystrophy. The purpose of this report was to evaluate clinical characteristics of the oral motor movements and swallowing of individuals with myotonic dystrophy type 1 (DM1) using a standardized clinical protocol and surface electromyography (sEMG). Participants were 40 individuals divided in two groups: G1 composed of 20 adults with DM1 and G2 composed of 20 healthy volunteers paired by age and gender to the individuals in G1. Statistical analysis included one-way ANOVA with two factors for within- and between-group comparisons and Bonferroni correction for multiple comparisons. Patients with DM1 presented deficits in posture, position, and mobility of the oral motor structures, as well as compromised mastication and deglutition. The sEMG data indicated that these patients had longer muscle activations during swallowing events. The longer duration of sEMG in the group of patients with DM1 is possibly related to myotonia and/or incoordination of the muscles involved in the swallowing process or could reflect a physiological adaptation for safe swallowing.
Dysphagia 2013 Sep
PMID:Oral motor movements and swallowing in patients with myotonic dystrophy type 1. 2346 Mar 43

To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = 53), cerebral palsy with dyskinetic features (n = 34), and neuromuscular disorders (myotonic dystrophy I, n = 5; spinal muscular atrophy I-II, n = 8; Duchenne muscular dystrophy, n = 8; other neuromuscular disorder, n = 10). Interpretation of the videofluoroscopic swallow studies was not blinded. The video fluoroscopic swallow study findings were compared dichotomously between the groups. Children with cerebral palsy demonstrated dysphagia in 1 or all phases of swallowing. In neuromuscular disorder, muscle weakness results in pharyngeal residue after swallow. The underlying swallowing problem in neuromuscular disorder is muscle weakness whereas that in cerebral palsy is more complex, having to do with abnormal control of swallowing. This study serves as a first exploration on specific characteristics of swallowing in different neurologic conditions and will help clinicians anticipate what they might expect.
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PMID:Children with central and peripheral neurologic disorders have distinguishable patterns of dysphagia on videofluoroscopic swallow study. 2402 10

A systematic review was conducted to investigate the pathophysiology of and diagnostic procedures for oropharyngeal dysphagia in myotonic dystrophy (MD). The electronic databases Embase, PubMed, and The Cochrane Library were used. The search was limited to English, Dutch, French, German, Spanish, and Portuguese publications. Sixteen studies met the inclusion criteria. Two independent reviewers assessed the methodological quality of the included articles. Swallowing assessment tools, the corresponding protocols, the studies' outcome measurements, and main findings are summarized and presented. The body of literature on pathophysiology of swallowing in dysphagic patients with MD type 1 remains scant. The included studies are heterogeneous with respect to design and outcome measures and hence are not directly comparable. More importantly, most studies had methodological problems. These are discussed in detail and recommendations for further research on diagnostic examinations for swallowing disorders in patients with MD type 1 are provided.
Dysphagia 2014 Jun
PMID:Oropharyngeal dysphagia in myotonic dystrophy type 1: a systematic review. 2445 31

This study describes the swallowing function of patients with myotonic dystrophy type 1 (DM1) and the effect of bolus consistency on swallowing in this group. The aim of the study is twofold: (a) to identify which (and to what extent) swallowing variables change for DM1 patients relative to healthy control subjects and (b) to examine whether the degree of oropharyngeal dysphagia is associated with disease severity. Forty-five consecutive DM1 patients and ten healthy subjects underwent a swallowing assessment, at Maastricht University medical Center in the Netherlands. The assessment included a standardized fiberoptic endoscopic evaluation of swallowing (FEES) protocol using different bolus consistencies. Clinical severity of the disease was assessed using the muscular impairment rating scale (MIRS). Significant differences were found between patients and controls for all FEES variables. The magnitude of these differences depended on the bolus consistency. The odds of a more pathological swallowing outcome increased significantly with higher MIRS levels. In conclusion, swallowing function is found to be significantly altered in DM1 patients. The results emphasize the importance of conducting a detailed swallowing assessment in all patients, even those with mild muscle weakness.
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PMID:Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES). 2526 66

Muscle mass wasting is one of the most debilitating symptoms of myotonic dystrophy type 1 (DM1) disease, ultimately leading to immobility, respiratory defects, dysarthria, dysphagia and death in advanced stages of the disease. In order to study the molecular mechanisms leading to the degenerative loss of adult muscle tissue in DM1, we generated an inducible Drosophila model of expanded CTG trinucleotide repeat toxicity that resembles an adult-onset form of the disease. Heat-shock induced expression of 480 CUG repeats in adult flies resulted in a reduction in the area of the indirect flight muscles. In these model flies, reduction of muscle area was concomitant with increased apoptosis and autophagy. Inhibition of apoptosis or autophagy mediated by the overexpression of DIAP1, mTOR (also known as Tor) or muscleblind, or by RNA interference (RNAi)-mediated silencing of autophagy regulatory genes, achieved a rescue of the muscle-loss phenotype. In fact, mTOR overexpression rescued muscle size to a size comparable to that in control flies. These results were validated in skeletal muscle biopsies from DM1 patients in which we found downregulated autophagy and apoptosis repressor genes, and also in DM1 myoblasts where we found increased autophagy. These findings provide new insights into the signaling pathways involved in DM1 disease pathogenesis.
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PMID:Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model. 2609 29

We report a case of X-linked myotubular myopathy with chylothorax. A male infant weighing 2,114 g was born to a mother whose pregnancy was complicated with polyhydramnios from gestational week 32. At gestational week 37, emergent caesarian section was performed due to membrane rupture followed by fetal bradycardia. Ventilatory support was necessary because the neonate showed severe birth asphyxia accompanied by hypotonia and dyspnea. He also showed a respiratory complication of chylothorax at 10 days old; therefore, thoracic drainage was performed. Congenital chylothorax associated with congenital myotonic dystrophy (CMD) has been described in a number of past reports. Specific findings of congenital myotubular myopathy and partial CMD, such as peripheral halo of muscle fibers, were demonstrated in biopsied muscle, and mutation of the myotubularin (MTM1) gene was identified. Tracheostomy was performed at 5 months old because of prolonged ventilatory support and severe dysphagia. The infant was able to be discharged at 17 months old. Congenital chylothorax might be associated with congenital myotubular myopathies such as CMD.
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PMID:[A case of X-linked myotubular myopathy with chylothorax]. 2701 8


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