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Emery-Dreifuss Muscular Dystrophy
EDMD
Presentation
- 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]
Entire Body System
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]
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]
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]
Gastrointestinal
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]
Musculoskeletal
Calf Hypertrophy
- Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy.[en.wikipedia.org]
- They include (i) early contractures of the elbows, Achilles tendons and spine; (ii) slowly progressive muscle wasting, mainly of the upper arm and lower leg (calf hypertrophy as in Duchenne/Becker dystrophies usually excludes the diagnosis); and (iii)[doi.org]
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]
Neurologic
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]
Workup
- 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]
Blocks
Left Anterior Fascicular Block
- The case of an affected man with first-degree AV block, incomplete right bundle branch block, and left anterior fascicular block is described in detail.[ncbi.nlm.nih.gov]
Right Bundle Branch Block
- The case of an affected man with first-degree AV block, incomplete right bundle branch block, and left anterior fascicular block is described in detail.[ncbi.nlm.nih.gov]
Incomplete Right Bundle Branch Block
- The case of an affected man with first-degree AV block, incomplete right bundle branch block, and left anterior fascicular block is described in detail.[ncbi.nlm.nih.gov]
Treatment
- 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 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
- 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]
Epidemiology
- 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]
Sex distribution
Age distribution
Pathophysiology
- 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
- 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]