What is muscular dystrophy? 

Muscular dystrophy is a disease of the nerves and muscles. The best treatment for muscular dystrophy depends on the type and progression. It is treated with physical therapy, medication and surgery.
Muscular dystrophy is a disease of the nerves and muscles. The best treatment for muscular dystrophy depends on the type and progression. It is treated with physical therapy, medication and surgery.

There is no cure for muscular dystrophy, but treatment can help you maintain your independence and strengthen your muscles. With an early diagnosis, it is possible for you to maintain a good quality of life. 

Muscular dystrophy is a disease that affects the nerves and muscles. It is usually hereditary and is typically diagnosed between the ages of two and five. The shoulders and pelvis are usually the first areas where muscular dystrophy presents itself. 

While it may take many years, muscular dystrophy will eventually spread to affect major nerves and muscle groups throughout the body. There are many different types of muscular dystrophy.  Each case presents little differently:

  • Becker muscular dystrophy (BMD)
  • Congenital muscular dystrophies (CMD)
  • Bethlem CMD
  • Fukuyama CMD
  • Muscle-eye-brain diseases (MEBs)
  • Rigid spine syndromes
  • Ullrich CMD
  • Walker-Warburg syndromes (WWS)
  • Duchenne muscular dystrophy (DMD)
  • Emery-Dreifuss muscular dystrophy (EDMD)
  • Facioscapulohumeral muscular dystrophy (FSHD)
  • Limb-girdle muscular dystrophies (LGMD)
  • Myotonic dystrophy (DM)
  • Oculopharyngeal muscular dystrophy (OPMD)

Signs and symptoms of muscular dystrophy

Children with muscular dystrophy will usually have problems moving around at a young age. They may not sit up, roll over, crawl, or walk as early as other children. These movements are directly affected because muscular dystrophy begins in the shoulders and pelvic area. 

In older children and adults, there may be a gradual onset of the following symptoms: 

  • Clumsiness, tripping, and falling
  • Difficulty walking uphill or climbing stairs
  • Inability to jump or hop
  • Toe walking
  • Pain in the pelvis or legs
  • Weakness in the upper body, including shoulders

As the disease progresses, additional problems can develop because of muscle weakness. You may experience heart and lung problems or an onset of scoliosis.

Causes of muscular dystrophy

Muscular dystrophy is a genetic disorder. It is caused by genetic information that is wrong or even missing. These mutated genes prevent your body from creating the proteins necessary to develop and grow healthy muscles.

Who can get muscular dystrophy? 

Anyone can have muscular dystrophy. It is primarily diagnosed in young children, however, since it is a progressive genetic disease. Certain individuals begin to notice symptoms later in life, and adulthood diagnoses are not uncommon.

Diagnosis for muscular dystrophy

In children with muscular dystrophy, your doctor may be cautious with a diagnosis at first. The symptoms of the disease may actually point toward delayed muscular development rather than dystrophy. Your doctor may first create a referral for physical therapy to strengthen your child’s muscles.

If there is a history of muscular dystrophy in your family, genetic markers that point to the disease will be found by a blood draw. Additional available tests include: 

  • Muscle biopsy: A muscle sample is examined with a microscope to look for signs of muscle degeneration. 
  • Genetic assessments: If there isn’t a known history of muscular dystrophy, genetic tests can look for markers that show the likelihood of developing the condition.
  • Neurological tests: This may include an electrocardiogram or an echocardiogram to measure your heartbeat and look for abnormalities in the ways your muscles work
  • Exercise tests: Your doctor may want to measure your strength to find out how muscular dystrophy is affecting your body.
  • Imaging tests: These may include magnetic resonance imaging (MRI) and ultrasound scans which are used to measure the fat content of your muscles.

Treatments for muscular dystrophy

The best treatment for muscular dystrophy will depend on the type you are diagnosed with and its progression in your body. You will likely have a treatment plan that includes a combination of medicine and therapy to manage your current symptoms and prevent further damage.

Physical therapy

Maintaining physical independence is the best way to prevent further muscle degeneration. For this reason, physical therapy is highly recommended for people with muscular dystrophy. A physical therapist can help you or your child focus efforts on the specific muscle groups affected by the disease. These therapies can increase your strength over time.

In addition, orthotic braces are often used to provide support to joints like the hips and knees. This helps to alleviate pressure from joints and encourage proper movement. Braces can assist you to walk and move independently without the need for a wheelchair or walker. 

Medication

Medication may be prescribed to help with pain, but there is no cure for the disease. Since the heart and respiratory muscles can weaken during the course of muscular dystrophy, respiratory care will eventually be necessary. 

Surgery

You may require surgery to correct your spinal alignment if muscular dystrophy causes scoliosis. A surgeon can fuse your vertebrae to straighten your spine and prevent further damage. 

Side effects of muscular dystrophy treatments

All medications have the potential for different side effects. Talk to your doctor about what to expect if you are prescribed a treatment. The greatest risk you face with muscular dystrophy is putting off treatment. As muscular dystrophy progresses, more muscles will unavoidably weaken. 

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Medically Reviewed on 1/28/2021
References
SOURCES:

Centers for Disease Control and Prevention: "What is Muscular Dystrophy?"

John Hopkins Medicine: "Muscular Dystrophy."

Kids Health: "Muscular Dystrophy."

Muscular Dystrophy Association: "Find a Neuromuscular Disease."

National Institute of Child Health and Human Development: "How is muscular dystrophy (MD) diagnosed?"

National Institute of Child Health and Human Development: "What are the treatments for muscular dystrophy (MD)?"

NYU Langone Health: "Mobility Aids & Orthotic Devices for Muscular Dystrophy."

Stanford Health Care: "Muscular Dystrophy."