Emery Dreifuss Muscular Dystrophy

Emery Dreifuss Muscular Distrophy

Description:

Emery Dreifuss Muscular Dystrohpy is an x-linked form of muscular dystrophy .A group of degenerative diseases which primarily affects voluntary muscles for example your arms legs hands torso etc. It weakens muscles and causes loss of muscle tissue. Joint deformities, called contractures restrict the movement of certain joints. It becomes more noticeable during early childhood.

Cause/Risk Factors:

The dominant type is caused by a mutation in the lamin A/C gene, LMNA, and also family history of muscular dystrophy.

Signs & Symptoms:

All of the muscles or some of the major muscles may be affected some signs and symptoms include; curved spine,stiff neck, weak humeral muscles, weak peroneal muscles, no reflexes, toe walking, frequent falls, large calf muscles,in some cases there is a mild mental retardation and fainting due to cardiac abnormalities

Muscle groups affected:

It mainly affects the shoulders and upper arms in most dystrophies it affects the lower legs first including skeletal and cariac muscles.

Diagnosis:

Genes associated with EDMD and FHL1 cause x-linked EDMD which causes autosomal

dominant and autosomal recessive. For all forms of EDMD the diagnosis is based on family history. It also relies on failure to detect emerin in various tissues in Molecular genetic testing of EMD or LMNA. A Physical examination or a Muscle Biopsy may also help determine the diagnosis.

Prognosis:

The prognosis of the people with a muscular dystrophy varies depending on the type and progression of the disorder. Many children die during infancy and some live into adulthood.

Prevention: Genetic testing can be done to know if you could get muscular dystrophy but also, having a healthy diet and maintaining better general health are really important as in all muscular dystrophies. Hard Physical exercises should be avoided. Antithromboembolic drugs may also be used to help prevent cerebral thromboembolism. Genetic tests can be done during pregnancy with about a 95% accuracy.

Treatment:

There is no specific treatment , but there is supportive care to preserve muscle activity and to prolong life expectancy. Some treatment may also include weight reduction to not put so much pressure on the muscles because they are very weak, corticosteroid medications and gene therapy.

INTERESTING FACTS:

-Emery Dreifuss Muscular Dystrophy is also known as Duchenne Muscular Dystrohpy

-It was first discovered by the French neurologist Guillaume Amand Duchenne in the 1860s.

-little was known about the cause of any kind of muscular dystrophy until the 1980s.

-It could affect people of all ages.

-Children with a Muscular Dystrophy are living more into adulthood than ever before thanks to newer treatments.

A day in the life…

When I was a baby my parents started noticing that I walked kind of weird. When they took me to the doctors I got misdiagnosed with a disease called Neuromuscular Disease ,it took years to find out that I actually had Emery Dreifuss Muscular Dystrophy. Being on my wheelchair all the time was very hard for my family and I and they had to adjust to my new lifestyle, going to the hospital and taking me to therapy all the time etc..I also had a hard time at school other kids would pick on me and call me names, I felt like I didn’t belong anywhere I was very weak and couldn’t run and do physical activities like all the other kids, but I had all the love and support I needed from my family to help me through it. Thankfully the doctors helped me understand my condition at my early age. All these experiences helped me a lot in my adult life. I am now attending college and I have an easier time getting around in my power weelchair.

BLIOGRAPHY:

"Signs of Emery-Dreifuss Muscular Dystrophy 2 - WrongDiagnosis.com." Wrong Diagnosis. Web. 14 Dec. 2010. <http://www.wrongdiagnosis.com/e/emery_dreifuss_muscular_dystrophy_2/signs.htm>.

Muscular Dystrophy: Prevention." FreeMD® Your Virtual Doctor. Web. 14 Dec. 2010. http://www.freemd.com/muscular-dystrophy/prevention.htm

"Duchenne Muscular Dystrophy: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. Web. 14 Dec. 2010. <http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm>.

Mail, By. "Facts About Muscular Dystrophy | MDA Publications." Welcome to MDA, Helping Jerry's Kids. Web. 14 Dec. 2010. <http://www.mdausa.org/publications/fa-md-qa.html>.