Muscular Dystrophy (MD)

Muscular dystrophy causes progressive weakness in your muscles and loss of muscle mass. The condition is not one but a group of diseases with a common cause: Gene mutations interfere with the production of proteins needed to form healthy muscle.

The two most common forms of muscular dystrophy are Duchenne and Becker muscular dystrophies. 

• Duchenne muscular dystrophy occurs in about half of all people with muscular dystrophy and the disease primarily affects boys (although girls may be carriers and may have mild forms of it). About one-third of the boys diagnosed with this form do not have a family history of the disease; this could indicate a spontaneous mutation of the gene instead of heredity as a cause. The onset for this form is generally between the ages of 2‒3 years.
• In Becker muscular dystrophy, the symptoms are typically milder and progress more slowly and usually begin in the teens but may not appear until the 20s.

Each form of muscular dystrophy is caused by a genetic mutation specific to that form of the disease; the mutation may be inherited or spontaneous.

The main symptom of all muscular dystrophies is progressive muscle weakness. 

• In the Duchenne form, you may experience frequent falling, difficulty rising from a prone or sitting position, trouble running and jumping, a waddling walk or walking on your toes, enlarged calf muscles, muscle pain and stiffness and learning disabilities. The symptoms are similar in the Becker form of muscular dystrophy, just milder.
• In the myotonic form (also known as Steinert’s disease), you may experience the inability to relax your muscles at will following contractions. Facial and neck muscles are the first to be affected. This form of muscular dystrophy can cause damage to your heart function. This version is the most common form of adult-onset muscular dystrophy.
• Facioscapulohumeral muscular dystrophy (FSHD) starts with muscle weakness in the face and shoulders. This form of the disease typically starts in the teen years but can begin in childhood or as late as age 40.
• Congenital muscular dystrophyappears between birth and age 2 and affects both boys and girls. The speed of progression and severity of this disease varies widely.
• In limb-girdle muscular dystrophy, hip and shoulder muscles are the first ones affected, making it difficult to lift the front part of the foot. This version usually starts in childhood or the teen years.

Muscular dystrophy has no cure, but medications and therapy can help manage symptoms and slow the progression of the disease.

Diagnosis of Muscular Dystrophy
Our team will begin with a medical history and physical examination.

We may suggest enzyme tests to determine if your muscles are releasing high levels of the enzyme creatine kinase, an electromyography to test the electrical activity patterns when you tighten and contract an affected muscle and genetic testing to confirm the genetic mutations that cause muscular dystrophy.

A muscle biopsy can help us determine the type of muscular dystrophy you have and heart-monitoring tests (EKG and echocardiogram) will allow us to test your heart function; some forms of muscular dystrophy (myotonic) can reduce heart function.

Because muscular dystrophy can reduce lung function, we may also suggest lung-monitoring tests. 

Treatment Options for Muscular Dystrophy
With muscular dystrophy, treatment can help prevent or reduce problems in the joints and spine to allow you to remain mobile as long as possible. The treatment options we may recommend include medications, physical therapy and surgical and other procedures.

The medications our team may suggest include corticosteroids (prednisone) to help improve your muscle strength and delay progress of the disease. If your form of muscular dystrophy has damaged your heart, we may suggest various blood pressure medications (ACE inhibitors, beta blockers).

Physical therapy and assistive devices can help improve the quality of your life with muscular dystrophy. General and range-of-motion and stretching exercises will help keep your joints flexible, braces can help keep your muscles and tendons stretched, ventilators may help you breathe and canes, walkers and wheelchairs will help you stay mobile.

Our team may also recommend surgery to correct a spinal curvature that might make breathing more difficult.

Since respiratory infections can be a problem in later stages of muscular dystrophy, we will suggest you keep up to date on your pneumonia and influenza vaccinations.