What is Emery-Dreifuss Muscular Dystrophy?
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What is Emery-Dreifuss Muscular Dystrophy?
Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart.
Is Emery-Dreifuss Muscular Dystrophy fatal?
Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder usually presenting in childhood with early contractures, slowly progressive humeral and posterior calf muscle weakness/atrophy, and potentially fatal dilated cardiomyopathy with conduction defects.
How is Emery-Dreifuss Muscular Dystrophy inherited?
In most cases of Emery-Dreifuss muscular dystrophy resulting from mutations in the LMNA gene, this condition has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
How is Emery-Dreifuss Muscular Dystrophy diagnosed?
DNA blood tests, for EDMD changes. Electromyography, to measure the electrical activity of the muscles. MRI, to see the pattern of muscle damage. Muscle biopsy, to look at the muscle cells or confirm a diagnosis.
Who discovered Emery-Dreifuss muscular dystrophy?
Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s.
What causes EMD?
Factors such as internal hemorrhage, acute cardiac tamponade, tension pneumothorax, acute pulmonary embolism, and inflow or outflow obstructions of the heart may be responsible for changes in loading. Myocardial ischemia, myocardial depressant overdose, and other conditions may also contribute to secondary EMD.
What is LMNA gene?
The LMNA gene provides instructions for making several slightly different proteins called lamins. The two major proteins produced from this gene, lamin A and lamin C, are made in most of the body’s cells. These proteins are made up of a nearly identical sequence of protein building blocks (amino acids).
What does Fabry disease do to your body?
People who have Fabry disease don’t have the enzymes that break down lipids or fats. These fats collect in blood vessels and tissue, raising the risk of heart attack, stroke and kidney failure. This genetic condition is passed from parent to child.
How long do people with Fabry disease live?
The life expectancy of males with Fabry disease was 58.2 years, compared with 74.7 years in the general population of the United States. The life expectancy of females with Fabry disease was 75.4 years, compared with 80.0 years in the United States general population.
Where is LMNA gene located?
chromosome 1q11-q23
The LMNA gene located on chromosome 1q11-q23 encodes the intermediate filament proteins lamins A and C. The lamins are located in the nuclear lamina at the nucleoplasmic side of the inner nuclear membrane and have a structural role in maintaining membrane integrity.
How common is LMNA gene mutation?
LMNA is one of the most frequent genes involved in dilated cardiomyopathy. In the largest study of 324 patients with DCM, prevalence of LMNA mutation was 7.5 % in familial cases and 3.6 % in sporadic cases, although the significance of some variants was unclear (in the absence of segregation in the family).
What is the life expectancy of someone with dystrophy?
Upward slanting eyes
What is the prognosis of muscular dystrophy?
Until now, experts believed more than 70,000 people had muscular dystrophy, but new research suggests this figure is actually over 110,000. It also found that people seem to be living longer with muscular dystrophy than previous studies have suggested.
Is muscular dystrophy a fatal disease?
Thus, muscular dystrophy is a fatal disease. However, muscular dystrophy is not fatal always. In few types of muscular dystrophy, the course of the disease is slow and mild. However, it cannot be reversed or treated completely. But its symptoms can be managed with medical intervention.
What causes muscular dystrophy?
There are many different types of muscular dystrophy, which represent a group of inherited genetic conditions that gradually cause the muscles to weaken. Muscular dystrophy is a progressive condition and cannot be cured, which means it gets worse over time
