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Emery-Dreifuss Muscular Dystrophy Type 1



  • 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]
  • The disease is genetically heterogeneous and may present several modes of transmission (X-linked and autosomal dominant or recessive).[link.springer.com]
  • […] in the early stages; 2) early contractures of the elbows, Achilles tendons, and post‐cervical muscles; and 3) a cardiomyopathy usually presenting as heart block (some female carriers may also develop heart block).[doi.org]
  • In classic X-linked inheritance males are affected, presenting full clinical symptoms of the disease. Females are usually not affected. Affected fathers can never pass X-linked diseases to their sons.[mda.org.au]
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.com]
Progressive Muscle Wasting
  • The findings confirm that a cardiomyopathy, presenting most often as atrioventricular block, is a significant feature of the disease, which is characterized by the triad of: 1) slowly progressive muscle wasting and weakness with a humero‐peroneal distribution[doi.org]
  • This disease is characterized by contractures of the elbows and the Achilles tendons at an early age, slowly progressive muscle wasting and weakness, and life potentially life-threatening heart muscle disease.[mda.org.au]
  • He confirmed that cardiomyopathy, presenting most often as atrioventricular block, is a significant feature of the disease, which is characterized by the triad of (1) slowly progressive muscle wasting and weakness with humeroperoneal distribution in the[genome.jp]
  • muscle wasting and weakness.[academic.oup.com]
Flexion Contracture
  • People affected with EDMD often have flexion contractures of the elbows and ankles. Elbow contractures force the elbow to remain bent at an angle.[mda.org.au]
  • contractures of the elbows Wheelchair dependency after age 16 years Preservation of neck flexor muscle strength differentiates BMD from DMD The most common cause of death in BMD-affected patients is dilated cardiomyopathy and heart failure.[centogene.com]
  • contractures of the elbows and shortening of the Achilles tendon, resulting in the development of “toe walking”.[dovepress.com]
Joint Deformity
  • This shortening creates joint deformity. Contractures usually begin in childhood or adolescence before any muscle weakness is evident. In most cases, contractures are recognized before patients reach 10 years of age.[mda.org.au]
  • Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood.[ghr.nlm.nih.gov]
Waddling Gait
  • Waddling gait, lumbar lordosis, and weakness of the shoulder girdle become apparent during adolescence. Mild pectus excavatum may be present.[whonamedit.com]
  • By the early teens, waddling gait with increased lumbar lordosis was marked and weakness of the shoulder girdle musculature appeared later.[genome.jp]
  • Individuals may first notice a problem when they begin to walk with a “waddlinggait 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]
  • Symptoms of Muscular Dystrophy Calf Pain Poor Balance Waddling Gait Frequent Falls Gonadal Atrophy Inability to walk Walking Difficulty Muscle Contractions Respiratory Difficulty Limited Range of Movement Drooping Eyelids (ptosis) Scoliosis (curvature[disabled-world.com]
  • Affected adults manifested a lordotic stance, a waddling gait, and absence of the deep tendon reflexes.[dovepress.com]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.com]
  • Bathen , Familial mydriasis, cardiac arrhythmia, respiratory failure, muscular weakness and hypohidrosis , Acta Neurologica Scandinavica , 102 , S174 , (3-31) , (2011) . Dennis Hartigan‐O'Connor and Jeffrey S.[doi.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 and management The muscle and skeletal symptoms of EDMD are treated as they appear. People with EDMD should see a neurologist at least once a year.[mda.org.au]
  • 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 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]
  • 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]
  • Prognosis Without serious heart involvement, most people with EDMD are expected to survive at least into middle age. Slow progression of muscle involvement allows most patients to walk and work until middle age or late adult life.[mda.org.au]
  • Muscular Dystrophy Prognosis The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder.[disabled-world.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]
  • 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]
  • 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]


  • 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]
  • Epidemiology Frequency No good data exist concerning the frequency of EMD1 or EMD2, but more than 70 different mutations have been reported in the EMD gene and more than 100 in LMNA.[emedicine.medscape.com]
  • In distal MD, it is at the 2q12-14 loci. [12] Epidemiology United States statistics The incidence of MD varies, depending on the specific type of MD under consideration.[emedicine.medscape.com]
Sex distribution
Age distribution


  • 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]
  • Pathophysiology Multiple proteins are involved in the complex interactions of the muscle membrane and extracellular environment.[emedicine.medscape.com]


  • Ankle and foot braces are used to prevent leg deformity. Surgery may be necessary to release contractures. Exercise can help maintain muscle use and overall good health.[mda.org.au]
  • Prevention - Emery-Dreifuss muscular dystrophy physical therapy and stretching to prevent contractures; implantation of cardiac defibrillators to reduce risk of sudden death.[checkorphan.org]
  • Maintenance of function and prevention of contractures Treatment of limb-girdle dystrophy focuses on maintaining function and preventing contractures.[merckmanuals.com]
  • […] 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]

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