Myotonic Dystrophies type 1 and 2: anesthetic care

Veyckemans, Francis; Scholtès, Jean-Louis

doi:10.1111/pan.12120

Cited by 67 publications

(62 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This finding, and the association between cardiac conduction defects and sudden death in DM1 may warrant early screening for conduction defects in younger patients with DM1. Similarly, the high rate of reported anesthesia complications reinforces previous recommendations regarding careful pre‐, peri‐, and post‐anesthesia care in all patients with DM1 …”

Section: Discussionsupporting

confidence: 79%

Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy

Johnson

Ekström

Campbell

et al. 2015

Develop Med Child Neuro

View full text Add to dashboard Cite

Aim The frequency and impact of symptoms experienced by patients with congenital, childhood, and juvenile‐onset myotonic dystrophy (CDM/ChDM/JDM) is not documented. This report identifies symptomatic areas with the greatest disease burden in an international population of patients with early‐onset myotonic dystrophy type‐1 (DM1). Method We distributed surveys to parents of patients with CDM/ChDM/JDM. Patients with CDM/ChDM/JDM were members of the US National Registry of DM1 Patients and Family Members, the Canadian Neuromuscular Disease Registry, or the Swedish Health System. Surveys inquired about 325 symptoms and 20 themes associated with CDM/ChDM/JDM. Parents identified the importance of each symptom and theme to their affected child. The prevalence of each symptom and theme were compared across subgroups of patients. The statistical analysis was performed using Fisher's exact and Kruskal–Wallis tests. Results One hundred and fifty parents returned surveys. The most frequently reported symptomatic themes in children were issues involving communication (81.7%) and problems with hands or fingers (79.6%). Problems with communication and fatigue were the issues that were reported to have the greatest impact on childrens’ lives, while 24.1% of children reported cardiac disorders and 15.8% had problems with anesthesia. Interpretation A range of symptoms contribute to the burden of disease faced by children with DM1. Many of these symptoms are under‐recognized.

show abstract

Section: Discussionsupporting

confidence: 79%

Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy

Johnson

Ekström

Campbell

et al. 2015

Develop Med Child Neuro

View full text Add to dashboard Cite

show abstract

“…Delays in diagnoses also impact critical care of DM. More awareness is needed of treatment and preventative care for anesthesia risks [10, 39–41], cardiac conduction disorders and sudden death [42–46], and potential increased rates of certain cancers in DM [47–50]. …”

Section: Discussionmentioning

confidence: 99%

Diagnostic odyssey of patients with myotonic dystrophy

et al. 2013

View full text Add to dashboard Cite

The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 (DM1) and 135 DM type 2 (DM2) patients]. Age of onset averaged 34.0 ± 14.1 years in DM2 patients compared to 26.1 ± 13.2 years in DM1 (p<0.0001). The most common initial symptom in DM2 patients was leg weakness (32.6%) compared to grip myotonia in DM1 (38.3%). Pain was reported as the first symptom in 11.1% of DM2 and 3.0% of DM1 patients (p<0.0001). Reaching the correct diagnosis in DM2 took 14 years on average (double the time compared to DM1) and a significantly higher percentage of patients underwent extended workup including electromyography, muscle biopsies, and finally genetic testing. DM patients who were index cases experienced similar diagnostic delays to non-index cases of DM. Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed.

show abstract

“…In addition, DM1 patients characteristically have many systemic manifestations of the disease. Cardiac involvement is always present to some degree, but patients may also have endocrine abnormalities which include hypogonadism and insulin resistance, cataracts, central nervous system deficits, such as specific cognitive and intellectual deficits, and gastrointestinal problems, including dysphagia and delayed gastric emptying . In the present case, along with the classic skeletal muscle weakens, other manifestations of DM1 included intellectual impairment, dysphagia, and gastro‐esophageal reflux disease.…”

Section: Discussionmentioning

confidence: 63%

Forensic Considerations in Cases of Myotonic Dystrophy at Autopsy

Omond

Byard

2017

Journal of Forensic Sciences

View full text Add to dashboard Cite

Myotonic dystrophy (DM) is a chronic, slowly progressive, autosomal-dominant disorder with delayed muscle relaxation after contraction, distal skeletal muscle weakness, and atrophy. It has a reduced life expectancy due predominantly to respiratory failure or sudden cardiac death. The mortality rate is approximately 7.3 times greater than the general population with a mean age at death of 53 years. Degeneration of the cardiac conduction system causes atrioventricular block, arrhythmias, and ventricular failure. A case of sudden death in a 44-year-old woman with DM type 1 is reported to demonstrate an alternative lethal mechanism. At autopsy, there was extensive infiltration of skeletal muscles with adipose tissue. The heart was structurally normal. A deep venous thrombosis of the right calf was identified with a large saddle pulmonary thromboembolus and bilateral peripheral thromboemboli. DM1-related thrombosis had most likely occurred because of the decedent's impaired mobility, possible hypercoagulable state, and serum changes from muscle necrosis.

show abstract

Myotonic Dystrophies type 1 and 2: anesthetic care

Cited by 67 publications

References 44 publications

Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy

Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy

Diagnostic odyssey of patients with myotonic dystrophy

Forensic Considerations in Cases of Myotonic Dystrophy at Autopsy

Contact Info

Product

Resources

About