We present here a case of Emery-Dreifuss muscular dystrophy with an unusually severe, early presentation. He presented at 2.5 years with predominantly proximal weakness and mild equinovarus deformity of the right foot. [ncbi.nlm.nih.gov]

• Hunting

  […] insight into the pathogenesis of this disorder, particularly that relating to the heart phenotype. emerin Emery–Dreifuss muscular dystrophy (EDMD) heart lamin Footnotes Nuclear Envelope Diseases and Chromatin Organization: Independent meeting held at New Hunt's [biochemsoctrans.org]

  Author information 1 The Randall Division of Cell and Molecular Biophysics, King's College, New Hunts House, Guy's Campus, London, UK. [ncbi.nlm.nih.gov]

• Weight Gain

  Steroids also carry potential risks and adverse effects such as weight gain (possibly making weakness worse), growth impairment, and osteopenia (decrease in bone mass), among others. [clevelandclinic.org]

  Growth deficiency worsens with advancing age despite adequate weight gain. Hyperopia with intermittent strabismus has been reported. [ncbi.nlm.nih.gov]

• Proportionate Short Stature

  The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with [ncbi.nlm.nih.gov]

• Increased Energy

  Our study suggests that patients with Emery-Dreifuss muscular dystrophy may have increased energy expenditure relative to healthy subjects. [ncbi.nlm.nih.gov]

• Exertional Dyspnea

  She developed exertional dyspnea at age 25, atrial fibrillation with slow ventricular rate was discovered, and a cardiac pacemaker was implanted. Her father had a similar disorder. [ncbi.nlm.nih.gov]

• Regurgitation

  Echocardiography revealed a huge right atrium and severe tricuspid regurgitation caused by annular dilatation and destruction of leaflets and chordae by pacemaker leads. [ncbi.nlm.nih.gov]

  Cardiac involvement (2:1 AV block, valvular (Mitral Regurgitation, Tricuspid Regurgitation) pathology and cardiomyopathy) was observed in all except in-patient 1. Serum CK levels ranged from 1.5 to 36 times the normal value (170 IU/L). [neurologyindia.com]

• Leukonychia

  A new mutation of lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease and leukonychia. [ncbi.nlm.nih.gov]

• Papule

  A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. [ncbi.nlm.nih.gov]

• Suggestibility

  There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 0.15. [ncbi.nlm.nih.gov]

  Around 45% of patients do not carry mutations in these genes suggesting other causative genes that remain to be identified. [orpha.net]

• Waddling Gait

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

  Inability to rise to an upright position without turning to the side, waddling gait, and progressive weakness are the characteristic features. Pseudohypertrophy of the calf muscles is due to fibrous tissue and fat infiltration. [icd9data.com]

Further workup revealed that the patient had severe anoxic encephalopathy. She was eventually made "do not resuscitate," and she died on the sixth day of hospitalization. [ncbi.nlm.nih.gov]

• Sinus Arrest

  Sinus arrest with junctional escape beats was noted. He was diagnosed as X-linked recessive EDMD (MIM 310300). A 28-yr-old female showed severe wasting and weakness of humeroperoneal muscles. [ncbi.nlm.nih.gov]

  Cardiologic evaluation performed at our heart Institute (INCOR) showed significant depression of left ventricle function associated with complex arrhythmia as sinus arrest (episodes with escape junctional rhythm resulting in bradycardias at rates of 35 [scielo.br]

Treatment of the cardiac disease: anti-arrhythmic agents including beta-blockers, diuretics, ACE inhibitors, cardiac devices (pacemaker, implantable cardiac defibrillator) when required, heart transplantation in case of end-stage heart failure, and treatment [orpha.net]

Other possible forms of management and treatment are the following: Orthopaedics Surgery Monitor/treat any cardiac issuesMedication (beta-blockers, ACE inhibitors)Respiratory aid Physical therapy Laminopathies Noncompaction cardiomyopathy Manila, S.; [en.wikipedia.org]

It first affects the atria, which results in atrial paralysis; treatment with ventricular pacing is usually needed. Female carriers can develop heart problems and are at risk of sudden death. [ncbi.nlm.nih.gov]

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]

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]

Prognosis Prognosis depends on the severity of muscle weakness, joint 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]

Clinical outcome and prognosis is frequently determined by the involvement of the cardiac conduction system causing symptomatic bradyarrhythmias, as well as tachyarrhythmias and, if untreated, frequent sudden cardiac death. [ncbi.nlm.nih.gov]

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

Summary Epidemiology Emery-Dreifuss muscular dystrophy (EDMD) prevalence is estimated at 1 in 400,000. [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]

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.com]

In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular [ncbi.nlm.nih.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.com]

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

When added to assembled nuclei, LB3T-Ig prevents the further incorporation of lamin B3 into the endogenous lamina and blocks nuclear growth. [ncbi.nlm.nih.gov]

To correct or prevent contractures and to increase range of motion, surgery (e.g., tendon release) may be necessary. [kidbones.net]