Conclusion: In case cardiac symptoms, elevation of the creatine kinase and slight contractures are present, Emery-Dreifuss muscular dystrophy should be considered as a differential diagnosis. [thieme-connect.com]

This report presents the cases of two brothers with this dystrophy in whom bilateral hypomyelination of the deep periatrial white matter was noted. [ajnr.org]

Mild pectus excavatum may be present. [whonamedit.com]

Slight CK elevation, present in both our patients, strengthens the suspicion of muscular disease. [revportcardiol.org]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

• Congestive Heart Failure

  heart failure, including antiarrhythmic drugs, cardiac pacemaker, implantable cardioverter defibrillator (ICD); heart transplantation for the end stages of heart failure as appropriate; respiratory aids (respiratory muscle training, assisted coughing [checkorphan.org]

  […] skeletal muscle involvement, but may have the cardiac abnormalities. [1] Associated Co-morbidities Individuals with EDMD present with a wide variety of cardiac abnormalities including atrial standstill, atrial fibrillation, congestive heart failure, [physio-pedia.com]

  congestive heart failure, ischemic heart disease or after heart transplantation. [frontiersin.org]

  Whether this is due to pacemaker failure or to the other cardiac manifestations of EDMD is unclear. 6 Congestive heart failure may result from the development of cardiomyopathy, typically a later finding in EDMD, which may be due to progressive myocardial [dovepress.com]

• Heart Failure

  Access new and updated guidelines covering Diseases of the Aorta, Peripheral Artery Diseases, Diabetes and the Cardiovascular System, Heart Failure, and Valvular Heart Disease. [books.google.com]

  failure, including antiarrhythmic drugs, cardiac pacemaker, implantable cardioverter defibrillator (ICD); heart transplantation for the end stages of heart failure as appropriate; respiratory aids (respiratory muscle training, assisted coughing techniques [checkorphan.org]

  failure [8] • Physical therapy [1] • Cardiac pacemaker or implantable cardioverter defibrillator for AV block and conduction disorder [8] • Pharmacologic and non-pharmacologic therapy for heart failure [8] Monitor: • Annual cardiac assessment (including [physio-pedia.com]

  To the Editor: Lamin A/C gene mutations are associated with various disorders, 1, 2 including cardiac abnormalities characterized by atrial fibrillation, conduction-system disturbances, sudden death, and heart failure. 3, 4 In retrospective analyses, [nejm.org]

  ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: the task force for the diagnosis and treatment of acute and chronic heart failure 2012 of the European Society of Cardiology. [ojs.kardiologiapolska.pl]

• Heart Disease

  Access new and updated guidelines covering Diseases of the Aorta, Peripheral Artery Diseases, Diabetes and the Cardiovascular System, Heart Failure, and Valvular Heart Disease. [books.google.com]

  Heart disease Genetic disease Neuromuscular diseases Nervous system diseases Arrhythmia Keyword (es) Complicación Distrofia muscular progresiva Emery Dreifuss Estudio caso Hombre Trastorno conducción Trastorno excitabilidad Aparato circulatorio patología [pascal-francis.inist.fr]

  Zipes Neurological disorders and cardiovascular disease (87) Braunwald's heart disease, pp. 2143-2144 [10] M.C. Fishbein, R.J. Siegel, C.E. [revportcardiol.org]

• Muscle Hypotonia

  […] and fasciculations of involved muscles Hypotonia or flaccidity Loss of tendon reflexes Normal abdominal reflexes and negative Babinski sign Neurological problems may also present with sensory deficits Case Reports/ Case Studies Emery-Dreifuss muscular [physio-pedia.com]

• Waddling Gait

  Waddling gait, lumbar lordosis, and weakness of the shoulder girdle become apparent during adolescence. Mild pectus excavatum may be present. [whonamedit.com]

  Signs and symptoms, which typically appear in early childhood, might include: Frequent falls Difficulty rising from a lying or sitting position Trouble running and jumping Waddling gait Walking on the toes Large calf muscles Muscle pain and stiffness [mayoclinic.org]

  The first patient was a 9-year-old boy who developed proximal muscle weakness and atrophy of the lower limbs, waddling gait, and lordotic posture by age 6. He had showed unsteady gait at age 4. [genome.jp]

  The most Common signs are those of poor balance with the child experiencing frequent falls, difficulty with walking, waddling with a duck like gait, pain in the calves of the legs and a limited range of movement. [disabled-world.com]

  Individuals may first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat, or climbing stairs. [mda.org]

Lack of dystrophin leads to cellular instability at these links, with progressive leakage of intracellular components; this results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD. [emedicine.medscape.com]

Treatment of any specific problems, such as joint stiffness (contractures), heart or breathing problems. There is a lot of research into MD at present and new treatments may be available in the future. [patient.info]

As there is currently no cure for MD, treatment is aimed at helping you to manage the condition. As different types of MD can cause different issues, the treatment you receive will be tailored to your needs. [healthnavigator.org.nz]

Management and treatment Management should include orthopaedic measures (orthopaedic apparatus, surgery for the Achilles tendon contractures and scoliosis), treatment of the cardiac disease: anti-arrhythmic agents including beta-blockers, diuretics, ACE [orpha.net]

Treatment of congenital muscular dystrophy consists of supportive care including physical therapy, which may help preserve function. [merckmanuals.com]

There is no definitive treatment available for Emery-Dreifuss Muscular Dystrophy. However, there are methods to suppress the symptoms or assist the heart, in order to prevent a sudden death. [dovemed.com]

Prognosis Prognosis depends on the severity of the tendon contractures, and of the cardiac and respiratory involvement. Patients with severe forms of the disease may lose the capacity to walk or require intermittent nasal ventilation. [orpha.net]

Prognosis - Emery-Dreifuss muscular dystrophy The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. [checkorphan.org]

The management is aimed more at treating the symptoms and controlling the complications (if any) The prognosis depends on the severity of the muscle contractures and the degree of cardiac involvement Emery-Dreifuss Muscular Dystrophy is a genetic disorder [dovemed.com]

Muscular Dystrophy Prognosis The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. [disabled-world.com]

Prognosis of MD A child has to first undergo a thorough physical examination followed by a detailed consultation on the family history. Some tests are also being suggested to conclude the type of MD, which has caused the problem. [giostar.com]

Etiology Several causative genes have been identified encoding ubiquitous proteins: emerin ( EMD ; Xq28 and FHL1 ; Xq26.3) for X-linked EDMD and lamin A/C ( LMNA ; 1q21.2) and LUMA ( TMEM43 ) for EDMD with autosomal transmission. [orpha.net]

The arrhythmogenic ventricular dysplasia, whose etiology has not yet been established and is more rare than EDMD, may appear as an atrial arrhythmia similar to EDMD, but there is no neurologic commitment 10. [scielo.br]

(Etiology) Emery-Dreifuss Muscular Dystrophy is caused by mutations in the EMD or LMNA gene. [dovemed.com]

Etiology Classification of types of muscular dystrophy The etiology of MD is an abnormality in the genetic code for specific muscle proteins. [8] They all are classified according to the clinical phenotype, the pathology, and the mode of inheritance. [emedicine.medscape.com]

Genetic Testing Genetic testing can determine the presence of particular defects that cause EDMD and can help predict the course of the disease, as well as help assess the risk of passing the disease on to the next generation. [1] Etiology/Causes Genes [physio-pedia.com]

Magee A, Nevin NC: The epidemiology of myotonic dystrophy in Northern Ireland. Community Genet 1999;2:179-183. McKeever K, Magee A: Epidemiology and genetics of Duchenne muscular dystrophy in Northern Ireland. Am J Hum Genet 2003;73:373. [karger.com]

Summary Epidemiology Prevalence is estimated at 1 in 300,000. [orpha.net]

Myology (14-18 March 2016; Centre convention, Lyon, France) 2016, p. 178-181 DMED : 15e réunion annuelle du réseau français Cukierman L 2016 Un nouveau phénotype pour les titinopathies Urtizberea JA 2016 A Systematic Review and Meta-analysis on the Epidemiology [myobase.org]

A systematic review and meta-analysis on the epidemiology of the muscular dystrophies. Can J Neurol Sci. 2016 Jan;43:163-77. Hilbert JE, Ashizawa T, Day JW, et al. Diagnostic odyssey of patients with myotonic dystrophy. [cdc.gov]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Citation on PubMed Mitsuhashi S, Kang PB. [medlineplus.gov]

Pathophysiology In 5 of 6 gene mutations that have been shown to cause EDMD, the affected protein is present in the LINC (linker of nucleoskeleton and cytoskeleton) complex. [emedicine.medscape.com]

In light of the pathophysiology of Emery-Dreifuss muscular dystrophy, there may be prominence of the macromolecular region as a result of more basic myelin components in the periventricular areas of signal intensity abnormality, and the prominent peak [ajnr.org]

Prevention - Emery-Dreifuss muscular dystrophy physical therapy and stretching to prevent contractures; implantation of cardiac defibrillators to reduce risk of sudden death. [checkorphan.org]

[…] of sudden death in persons with cardiovascular disease and also in primary prevention in patients with a reduced ejection fraction ( Christophe Meune, M.D. [nejm.org]

Maintenance of function and prevention of contractures Treatment of limb-girdle dystrophy focuses on maintaining function and preventing contractures. [merckmanuals.com]

There is no cure for MD, but researchers are quickly learning more about how to prevent and treat it. [kidshealth.org]