Emery- Dreifuss muscular dystrophy

Summary

Citations

EDMD places the body out of homeostasis by a nucleus defect/deficiency. Also places the body out of homeostasis by being a muscle disease that slowly causes weakness in the shoulders, upper arms, and calves. It can cause problems with walking, going up stairs, lifting items/things, and pretty much anything that uses muscles in your shoulders, upper arms, and calves. There is absolutly No cure for EDMD yet, but there are treatments for it.

https://docs.google.com/document/d/1c4v31jOJ_k0X_z3pvKtLytp9gfwP9LK0CozIFaaaUNg/edit

Current Research

One foundation that I have found that is researching EDMD is called MDA (Muscular Dystrophy Assocation)

- Exampls are: Gene therapy, Gene slicing, Cell therapy

Prognosis of indviduals with disease

-The hip and thigh muscles might become weaker. This can make things like walking up stairs difficult.

-Currently exploring ways to correct muscle problems caused by the gene defects

-might need a wheelchair if they become unable to walk.

-EDMD causes weakness in your child's shoulders, upper arms, and calves. The disease also causes stiff joints that can't move well

-This type of MD can also cause heart block, where it affects the heart's electric signals

-slow heartbeat and may lead to periods of lightheadedness or fainting

Diagnosis of individuals with disease

-You might also experience tiredness or breathlessness.

-A diagnosis can leave families feeling isolated, overwhelmed, and confused. The most important thing for you to remember is that you are not alone.

-a doctor usually begins by taking a patient and family history and performing a physical examination.

-High CK level often suggests that the muscles are the cause of the weakness.

-Life expectancy might be shortened but many people with EDMD reach middle age or later.

-Special tests called Nerve Conduction Studies and Electromyography (EMG) are done. In the tests, electricity and pins are used to assess the muscles or nerves individually to find the problem.

-tests on the biopsy sample can inform the doctor which muscle proteins are present in the muscle cells, if they're present in normal amounts, and in the right locations. This can tell the doctor and patient what’s wrong with the cells’ proteins and provide likely candidates as to which genes are responsible for the problem.

-Next determine if the patient’s weakness is from a problem in the muscles or in the nerves that control them.

Treatments/Medications available to individuals with disease

-To determine which disorder is causing CK elevation, a doctor orders a muscle biopsy. examining this sample, doctors can tell what’s actually happening inside the muscles.

(Past)

(Current)

-There is no cure for EDMD but there are treatments that can help

-The origin of the weakness can be pinpointed by a physical exam.

-Early in the diagnostic process doctors often order a blood test called "CK level". CK stands for creatine kinase.

-Regular gentle exercise can help maintain muscle strength, But no weight lifting

-After researching I could not find any past treatments

-Eating a healthy balanced diet and maintaining a healthy weight

Symptoms and Effects

Of EDMD

-heart problems. You'll see a cardiologist (heart specialist)

Emery-Dreifuss muscular dystrophy (EDMD) is one of the Muscular Dystrophies (Type of disease). These are a group of rare, inherited muscle diseases.

-You might be offered surgery for scoliosis, or to divide your heel tendons to help with walking.

Emery-Dreifuss Muscular Dystophy

-Weakness and wasting (atrophy) of muscles in the shoulders, upper arms, and calves

-Stiff joints that make it hard to move around.

The joints are often in the elbow, neck, heel, and spine.

Alternate names

-Benign scapuloperoneal muscular dystrophy with early contractures

-EDMD

-Emery-Dreifuss syndrome

Where

First Discovered the disorder among a Virginia family

Who & When

Early causes of the disease was made by Cestan and Lejonne in 1902. Emery and Dreifuss provided a more detailed description of the clinical features in 1966.

In 1979, It became known as Emery-Dreifuss muscular dystrophy disease.

-regulation of the transcription of the mRNA to protein.

-repository of genetic information and as the cell's control center

NUCLEUS

-controls and regulates the cell

-Stores DNA, RNA and ribosome.

-control of cell division and cell growth.

-control of the protein and enzyme synthesis.

In most cases, EDMD is inherited as an X-linked recessive trait. EDMD may also be inherited as an autosomal dominant trait. Autosomal recessive inheritance is extremely rare, but has been reported in at least one family.

-might have a pacemaker or an ICD (implantable cardioverter defibrillator) inserted to help with your heart function.

How

-Blood tests

-DNA blood tests

-Electromyography

-MRI Scans

-Muscle biopsy

-Electrocardiogram

-Heart monitoring

-Fainting or fluttering heartbeat (palpitations) because of heart problems. These are usually seen by age 30.

-Muscle weakness that slowly gets worse