Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy

What is it?

Emery-Dreifuss muscular dystrophy is one of the nine type of muscular dystrophy. A disorder on the muscle that mainly affects the moving muscles (skeletal muscle) and cardiac muscle. This causes joint deformities called contractures thus restricting movements of certain joints, mainly in the elbow, ankles, and neck. This mostly occurs in children over time they get muscular atrophy.

Cause and risk factors

The cause of EMDM is, mutations in the genes, this disease in inherited. One of the ways in if the person is been born from an X-linked recessive person, located in the X chromosome

Sings and Symptoms:

The main symptoms are usually noticed by age 10. They are contractures at a young age, muscular atrophy of the upper arms and lower legs. Lack of coordination may also be presented and stiffness of the spine. Also a defect on heart’s rhythm.(detected by age 20)

Muscle groups

The muscle groups that are been affected are mostly voluntary muscles. The skeletal, and cardiac.

Diagnosis:

Patients with EDMD must obtain Electrocardiogram it detects the heart’s conditions overtime, to see if its been working properly. Electromyography is also used to evaluate electrical activity produced by skeletal muscles. A muscle biopsy is also necessary to detect this type of disorder . Patient’s family history is then studied, since this in inherited.

Prognosis

Some children unfortunately die in infancy, but others are able to make it to adulthood.

X-link gene 1:100,000

40% of patients with EDMD had sudden cardiac death.

Prevention

Unfortunately there is not prevention, but improvement can be done to prevent the disorder from developing more things like:

Physical therapy to improve muscle strength.

Involve your self in a lot of activities.

Treatment:

Unfortunately there is no treatment, but its main goal is to control the symptoms. Physical therapy can help patients maintain their muscle strength, due to the weakness on them. In some occasion surgery is necessary, but other than that then patients can be assigned to a wheel chair to improve flexibility, and movement of the affected muscles. In order to improve many of the symptoms, the patient must be involved in a lot of activities that keeps them active, because if the opposite is been done, then the disorder will only get worse.

A day in life

Today is my first day into the 3rd grade, as I walk in with my wheelchair everyone stares at me. I really don’t know how to react to this, since my Mommy told me to cover my ears if mean kids start picking on me. My doctor mention that this is normal, and to not feel different, but honestly I do. I don’t remember any serious accident that could put me into this conditions, I visit the clinic very often, and I have therapy a lot. My Mommy told me I will be ok. I’m not going to lie but my muscles, have been feeling very weakly lately, it get hard for me to pick up my Science book to do my homework, my back hurts as well. So here I am sitting in class, with a Special Education teacher following me everywhere, this really cute girl approaches me and makes a bad comment “Haha you have to sit on a wheel chair because you are not normal”. I break out crying and my Mommy was called to pick me up from school. I don’t want to live anymore, why can’t I be normal, and have a normal childhood?

Fun Facts

-Males are affected in X-linked EDMD

-EDMD can cause learning disabilities

-Muscular Dystrophy appeared in 1830

-EDMD is often misdiagnose

-protein affected:28

RESOURCES:

"Emery-Dreifuss Muscular Dystrophy - GeneReviews - NCBI Bookshelf." Emery-Dreifuss-Muscular Dystrophy. National Center for Biotechnology Information, . Web. 15 Dec. 2010. <http://www.ncbi.nlm.nih.gov/books/NBK1436/>

"Emery-Dreifuss Muscular Dystrophy, X-linked Symptoms, Diagnosis, Treatments and Causes - WrongDiagnosis.com." Wrong Diagnosis. HON@CODE, 18 Nov. 2008. Web. 15 Dec. 2010. <http://www.wrongdiagnosis.com/e/emery_dreifuss_muscular_dystrophy_x_linked/intro.htm>.