Symptoma

Emery-Dreifuss Muscular Dystrophy

EDMD

Cardiac imaging revealed dilated cardiomyopathy in two of the individuals, one of whom was presented with heart failure. The second patient presented with no significant abnormalities in cardiac structure or function. [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]

  • Collapse

    She later collapsed suddenly and unexpectedly while at home, with witnesses present, and was found cyanotic with pulseless electrical activity by the emergency squad. [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]

  • Vomiting

    A 33-year-old man was admitted for general malaise and vomiting. An electrocardiogram showed a complete atrioventricular block and an echocardiogram showed right atrial dilatation and normal wall motion of left ventricle (LV). [ncbi.nlm.nih.gov]

  • Brachydactyly

    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]

  • 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]

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]

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]

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]

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]

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]

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

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