Life with Muscular Dystrophy

Did You Know? There are 9 general types of Muscular Dystrophy

Duchenne Muscular Dystrophy Occurs in About 1 in 3,500 Male Births

Most Patients with Muscular Dystrophy will die by the time they reach age 30

Muscular Dystrophy (MD) is a very debilitating disease and causes irreparable damage to the body as the patient ages. The name is a classification for a group of inherited disorders which all affect the muscles.   

Please use this guide as a resource for knowledge and understanding of muscular dystrophy causes, symptoms and diagnosis.

01│Causes

An abnormality within the genes is what causes MD. Each form of MD is caused by a genetic mutation particular to that type of the disease. Many of these mutations are inherited. However, some occur spontaneously in the ovum (egg cell) or the developing embryo and can be passed on genetically.  

02│Symptoms

There are many different types of MD but they all have similar symptoms. The main sign of MD is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. Most patients will have the following symptoms:

• Frequent falls
• Difficulty getting up from a lying or sitting position
• Trouble running and jumping
• Waddling gait
• Walking on the toes
• Large calf muscles
• Muscle pain and stiffness
• Learning disabilities

03│Diagnosis

Diagnosing MD can be complicated and lengthy, and it is important to rule out any other possible disease or illnesses. It is critical to receive the correct diagnosis in order to look at any possible treatment options. The following may be performed to diagnose MD:   

• Enzyme tests - High blood levels of creatine kinase (CK) suggests a muscle disease — such as muscular dystrophy.
• Electromyography - Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.
• Genetic testing - Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy.
• Muscle biopsy - Analysis (biopsy) of the tissue sample can distinguish muscular dystrophies from other muscle diseases.
• Heart-monitoring tests (electrocardiography and echocardiogram) - These tests are used to check heart function, especially in people diagnosed with myotonic muscular dystrophy.
• Lung-monitoring tests - These tests are used to check lung function.

04│Treatment

Options vary from patient to patient based on medical needs. Not all treatment options are available to all patients; eligibility will be determined by the health and patient requirement. Treatment ranges from physical therapy, steroids to surgeries, depending on the stage and type of MD. 

For more information on muscular dystrophy and other neuromuscular conditions, please visit: http://www.mda.org/

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References

https://www.cdc.gov/ncbddd/musculardystrophy/facts.html

https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/muscular-dystrophy