Complications After Dental Sedation: A Myotonic Mystery Case Report.

Myotonic dystrophy (dystrophia myotonica; DM) is an uncommon progressive hereditary muscle disorder that can present with variable severity at birth, in early childhood, or most commonly as an adult. Patients with DM, especially type 1 (DM1), are extremely sensitive to the respiratory depressant effects of sedative-hypnotics, anxiolytics, and opioid agonists. This case report describes a 37-year-old male patient with previously undiagnosed DM1 who received dental care under minimal sedation using intravenous midazolam. During the case, the patient experienced 2 brief episodes of hypoxemia, the second of which required emergency intubation after propofol and succinylcholine and resulted in extended hospital admission. A lipid emulsion (Liposyn II 20%) infusion was given approximately 2 hours after the last local anesthetic injection due to slight ST elevation and suspicion of local anesthetic toxicity (LAST). Months after treatment, the patient suffered a fall resulting in a fatal traumatic brain injury. Complications noted in this case report were primarily attributed to the unknown diagnosis of DM1, although additional precipitating factors were likely present. This report also provides a basic review of the literature and clinical guidelines for managing myotonic dystrophy patients for dental care with local anesthesia, sedation, or general anesthesia.

Improved grip myotonia in a patient with myotonic dystrophy type 1 following electroacupuncture therapy: A CARE-compliant case report.

RATIONALE: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant disorder associated with a short life expectancy and various symptoms, including grip myotonia. Even though grip myotonia decreases quality of life, activities of daily living (ADLs), and work performance, very few interventions provide symptomatic relief. PATIENT CONCERNS: In this case report, we present a patient with DM1 and gradually worsening grip myotonia. A 35-year-old woman developed grip myotonia at age 27. She had no underlying diseases or family history of relevant conditions, including DM1. She was unresponsive to medication for several years. DIAGNOSIS: Her symptoms gradually worsened, and she was finally diagnosed with DM1 via genetic, neurologic, and laboratory testing in a tertiary hospital at age 32. She tried several medication therapies; however, she stopped medication at age 34 due a perceived poor response and several adverse events. INTERVENTION: At the age of 35, she underwent 29 sessions (10 minutes per session) of electroacupuncture therapy on TE9 acupuncture point with 120 Hz electrical stimulation over 3 months. OUTCOMES: After 3 months, relaxation time after maximal voluntary isometric contraction decreased from 59 to 2 seconds with treatment. Her Michigan Hand Outcomes Questionnaire score improved (total score, 66.6-75.9; ADL sub-score, 59.7-73.6; function sub-score, 70-90; satisfaction sub-score, 75-91.7). Her Measure Yourself Medical Outcome Profile 2 score also improved from 4.33 to 2. There were no serious adverse events. LESSONS: Electroacupuncture is a potential treatment modality and produced an immediate antimyotonic effect, and cumulative long-term treatment effect, in a patient with DM1 and grip myotonia. Other notable treatment outcomes included improving relaxation time, hand function, ADLs, and overall satisfaction. Electroacupuncture is a potential treatment modality for patients with DM1 and grip myotonia. Further prospective clinical studies are warranted to confirm this hypothesis.

Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1.

Myotonic dystrophy type 1 (DM1), the most common cause of adult-onset muscular dystrophy, is autosomal dominant, multisystemic disease with characteristic symptoms including myotonia, heart defects, cataracts and testicular atrophy. DM1 disease is being successfully modelled in Drosophila allowing to identify and validate new pathogenic mechanisms and potential therapeutic strategies. Here we provide an overview of insights gained from fruit fly DM1 models, either: (i) fundamental with particular focus on newly identified gene deregulations and their link with DM1 symptoms; or (ii) applied via genetic modifiers and drug screens to identify promising therapeutic targets.

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause. Cardiologists are often ill-equipped to manage these patients due to lack of training and exposure as well as the complete absence of practice guidelines to aid in the diagnosis and management of these disorders. Here, we review three key neuromuscular diseases that affect the cardiovascular system in adults (myotonic dystrophy type 1, Friedreich ataxia, and Emery-Dreifuss muscular dystrophy), with an emphasis on their clinical presentation, genetic and molecular pathogenesis, and recent important research on medical and interventional treatments. We also advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients.

Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study.

OBJECTIVE: Functional electrical stimulation (FES) is a new rehabilitative approach that combines electrical stimulation with a functional task. This pilot study evaluated the safety and effectiveness of FES lower extremity training in myotonic dystrophy type 1. DESIGN: This is a controlled pilot study that enrolled 20 patients with myotonic dystrophy type 1 over 2 years. Eight patients (age, 39-67 years) fulfilled the inclusion criteria. Four participants performed FES cycling training for 15 days (one daily session of 30 minutes for 5 days a week). A control group, matched for clinical and genetic variables, who had contraindications to electrical stimulation, performed 6 weeks of conventional resistance and aerobic training. The modified Medical Research Council Scale and functional assessments were performed before and after treatment. Cohen d effect size was used for statistical analysis. RESULTS: Functional electrical stimulation induced lower extremity training was well tolerated and resulted in a greater improvement of tibialis anterior muscle strength (d = 1,583), overall muscle strength (d = 1,723), and endurance (d = 0,626) than conventional training. CONCLUSIONS: Functional electrical stimulation might be considered a safe and valid tool to improve muscle function, also in muscles severely compromised in which no other restorative options are available. Confirmation of FES efficacy through further clinical trials is strongly advised.

Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease.

CONTEXT: Up to one-third of patients with myotonic dystrophy type 1 die suddenly. Thus far, no intervention has effectively prevented sudden death. OBJECTIVE: To determine whether an invasive strategy based on systematic electrophysiological studies and prophylactic permanent pacing is associated with longer survival in patients presenting with myotonic dystrophy type 1 and major infranodal conduction delays than a noninvasive strategy. DESIGN, SETTING, AND PATIENTS: A retrospective study, the DM1 Heart Registry included 914 consecutive patients older than 18 years with genetically confirmed myotonic dystrophy type 1 who were admitted to the Neurological Unit of the Myology Institute of Pitié-Salpêtrière Hospital, a teaching medical center in Paris, France, between January 2000 and December 2009. INTERVENTIONS: Among 486 patients whose electrocardiogram showed a PR interval greater than 200 milliseconds, a QRS duration greater than 100 milliseconds, or both, the outcome of 341 (70.2%) who underwent an invasive strategy was compared with 145 (29.8%) who underwent a noninvasive strategy. A propensity score risk adjustment and propensity-based matching analysis was used to account for selection biases. MAIN OUTCOME MEASURES: Rates of overall survival (main outcome measure) and sudden death, respiratory death, and other deaths (secondary outcome measures). RESULTS: Over a median follow-up of 7.4 years (range, 0-9.9 years), 50 patients died in the invasive strategy group and 30 died in the noninvasive strategy group (hazard ratio [HR], 0.74 [95 CI, 0.47-1.16]; P = .19), corresponding to an overall 9-year survival of 74.4% (95% CI, 69.2%-79.9%). Regardless of the technique used to adjust for between-group differences in baseline characteristics, the invasive strategy was associated with a longer survival, with adjusted HRs ranging from 0.47 (95% CI, 0.26-0.84; P = .01) for a covariate-adjusted analysis of propensity-matched data to 0.61 (95% CI, 0.38-0.99; P = .047) for an analysis adjusted for propensity score quintiles. The survival difference was largely attributable to a lower incidence of sudden death, which occurred in 10 patients in the invasive strategy group and in 16 patients in the noninvasive strategy group, with HRs ranging from 0.24 (95% CI, 0.10-0.56; P = .001) for an analysis adjusted for propensity score quintiles and covariates to 0.28 (95% CI, 0.13-0.61; P = .001) for an unadjusted analysis of propensity-matched data. CONCLUSION: Among patients with myotonic dystrophy type 1, an invasive strategy was associated with a higher rate of 9-year survival than a noninvasive strategy. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT01136330.

Caracterização, avaliação e abordagem fisioterapêutica das principais alterações funcionais do portador de distrofia miotônica / Characterization, evaluation and physical therapy approach to major functional disorders of people with myotonic dystrophy

Objetivo: Buscar na literatura uma caracterização do papel da fisioterapia na Distrofia Miotônica, assim como pesquisar abordagens atuais e relevantes sobre as principais alterações funcionais do portador desta distrofia. Fontes Pesquisadas:Realizou-se revisão bibliográfica no período compreendido entre março e junho de 2009, nas bases de dados eletrônicas SciELO, Science Direct ePEDro. Foram usados como critérios para inclusão dos artigos: a) abordagem sobre Distrofia Miotônica e doenças neuromusculares; b) discussão sobreformas de tratamento fisioterapêutico da Distrofia Miotônica; c) publicações nas línguas inglesa, portuguesae espanhola; d) publicações nos períodos entre 1990 a 2009. Síntese dos Dados: A literatura apresentacomo objetivos fisioterapêuticos o tratamento da dor; fisioterapia pós-operatória; prevenção do atraso do desenvolvimento neuropsicomotor; e, notratamento, do que foi chamado de “pés caídos”, encurtamento e enfraquecimento da musculatura próxima ao tornozelo. As condutas utilizadas foram: fortalecimento, exercícios respiratórios, massoterapia, mobilização passiva, termoterapia, drenagem postural e uso de órteses. Conclusões: Baseado nos artigos analisados, percebeu-se a importância do tratamento fisioterapêutico na Distrofia Miotônica, destacando-se o fortalecimento muscular com intensidade adequada.

Objectives: To find in literature a characterization of the physical therapy applications in Myotonic Dystrophy, as well as a research for current and relevant approaches on the majorfunctional changes of the bearer of this dystrophy. Data Source: There was a bibliographic review between March and June, 2009, in SciELO, Science Direct, and PEDro electronic data bases.It was used as criteria for inclusion of articles: a) approach to Myotonic Dystrophy and neuromusculardiseases, b) discussion of forms of physical therapy in Myotonic Dystrophy, c) publications in English, Portuguese and Spanish; d) publicationsin the period between 1990 and 2009. Data Synthesis: The literature presents as physiotherapy objectives: the treatment of the pain; postoperativephysiotherapy; prevention of neuropsychomotor development delay; and the treatment of, which was called “fallen foot”, shortening and weakening of the muscles near the ankle. The conducts used were: strengthening, breathing exercises, massotherapy, passive mobilization, thermotherapy, postural drainage and use of orthoses. Conclusions: Based on the analyzed articles, was noticed the importance of the physical therapytreatment in Myotonic Dystrophy, emphasizing the muscle strengthening with appropriate intensity.

Health supervision and anticipatory guidance in adult myotonic dystrophy type 1.

The complexity and variability of disease manifestations in myotonic dystrophy (DM1) pose a challenge for the clinical management of patients. The follow-up of DM1 patients has been described as fragmented, inadequate or even deficient for many patients. Through a systematic review of the medical and social literature and a validation process with a DM1 expert panel, we summarized systemic and social concerns clinically relevant to DM1 and revisited recommendations for treatment. This article summarizes common manifestations of the central nervous system, visual, respiratory, cardiac, gastro-intestinal, genito-urinary, muscular and metabolic impairments. In addition, we emphasized the social features of DM1 such as low education attainment, low employment, poor familial and social environment and poor social participation. While cardiac, respiratory and swallowing problems affect life expectancy, it is often excessive daytime sleepiness, fatigue, gastro-intestinal and cognitive behavioural manifestations that are the most disabling features of the disorder. A more holistic approach in the management of DM1 and a purposeful integrated organization of care involving all members of the patients' environment including family, clinicians, decision-makers and community organizations are needed to move out of the spiral of disease and handicap and move toward optimal citizenship and quality of life.

Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study.

OBJECTIVE: Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy in adults. DM1 is a multisystem disorder also affecting the heart with an increased incidence of sudden death, which has been explained with the common impairment of the conduction system often requiring pacemaker implantation; however, the occurrence of sudden death despite pacemaker implantation and the observation of major ventricular arrhythmias generated the hypothesis that ventricular arrhythmias may play a causal role as well. The aim of the study was to assess the 2-year cumulative incidence and the value of noninvasive and invasive findings as predictive factors for sudden death, resuscitated cardiac arrest, ventricular fibrillation, sustained ventricular tachycardia and severe sinus dysfunction or high-degree atrioventricular block. METHODS/DESIGN: More than 500 DM1 patients will be evaluated at baseline with a clinical interview, 12-lead ECG, 24-h ECG and echocardiogram. Conventional and nonconventional indications to electrophysiological study, pacemaker, implantable cardioverter defibrillator or loop recorder implantation have been developed. In the case of an indication to electrophysiological study, pacemaker, implantable cardioverter defibrillator or loop recorder implant at baseline or at follow-up, the patient will be referred for the procedure. At the end of 2-year follow-up, all candidate prognostic factors will be tested for their association with the endpoints. TRIAL REGISTRATION: ClinicalTrials.gov ID NCT00127582. CONCLUSION: The available evidence supports the hypothesis that both bradyarrhythmias and tachyarrhythmias may cause sudden death in DM1, but the course of cardiac disease in DM1 is still unclear. We expect that this large, prospective, multicenter study will provide evidence to improve diagnostic and therapeutic strategies in DM1.

[The electrotherapy of the arrhythmias in 3 cases of myotonic dystrophy (Steinert's disease)]. / Terapia elettrica delle aritmie in tre casi di distrofia miotonica (malattia di Steinert).

Myotonic dystrophy is a progressive multisystem disease with autosomal dominant inheritance. Cardiac involvement is an integral part of the disorder, the most prominent manifestations being various conduction defects and rhythm disturbances sometimes related to syncope or sudden cardiac death. We describe 3 cases admitted to our Centres. Two patients received a permanent pacemaker for atrioventricular block of different degree and in the third case an implantable cardioverter defibrillator with antibradycardia pacing was inserted for malignant ventricular tachyarrhythmias and advanced atrioventricular block during atrial flutter.

[The positive effect of mud applications in the treatment of myotonic dystrophy]. / Polozhitel'nyi éffekt griazevykh applikatsii pri lechenii miotonicheskoi distrofii.

A case communication. Positive effect in reducing myotonia after mud applications was achieved in a myotonic patient. Plausible therapeutical mechanisms of peloid action on the disease are described.

Dystrophia myotonica: a case report.

A case study is presented to demonstrate the importance of utilizing clinical and laboratory diagnosis to confirm dystrophic disease. A review of the signs and symptoms of myotonic dystrophy is discussed, and a chiropractic approach is outlined for management of this debilitating disease.