Search by name
logo
Menu

Muscular Dystrophy

Muscular dystrophy is a group of over 30 genetic muscular conditions that all can lead to muscle pain and weakness. Symptoms vary based on the type of muscular dystrophy a patient has, but the different types lead to muscle weakness. Depending on the type of muscular dystrophy a patient has, they may develop symptoms as early as birth or as late as adulthood.

Types

There are over 30 known types of muscular dystrophy, all of which vary in severity. The main types of muscular dystrophy include Duchenne muscular dystrophy, Becker muscular dystrophy, and Myotonic Muscular Dystrophy.

  • Duchenne Muscular Dystrophy is one of the most common and most severe types. It almost exclusively affects males because it is passed through the X chromosome. You only need one copy of a defective X chromosome to be affected. Females are born with two X chromosomes and can develop a mild form of Duchenne muscular dystrophy or be completely unaffected if their second X chromosome is unaffected. This type of muscular dystrophy leads to muscle pain, weakness, and mobility issues early in life. Most affect patients are in a wheelchair by their teenage years.
  • Becker Muscular Dystrophy is another common type of muscular dystrophy and tends to be less severe than Duchenne’s. It also mainly affects males, and can lead to muscular degeneration, which leads to weakness. Symptoms can start as early as age 5 but may also begin later in early adulthood.
  • Myotonic Dystrophy is most often diagnosed in adulthood. It is found equally in males and females, and it causes difficulties in relaxing muscles after using them. For example, if you go to shake someone’s hand, you may have issues letting go of their hand if you have myotonic dystrophy.

Symptoms

The mainstay symptom of all muscular dystrophy disorders is muscle degeneration and weakness. Depending on the type of muscular dystrophy, symptoms may appear as early as infancy to as late as middle adulthood. Common symptoms include:

  • Muscle atrophy
  • Difficulty with mobility, especially inability to climb stairs
  • Change in walking gait
  • Muscle pain
  • Fatigue

Most muscular dystrophy disorders start with muscle atrophy in the hips and pelvis. This leads to frequent falls, difficulty walking long distances, and difficulty getting out of chairs or off of the floor.

Reference Articles

Muscular System Diseases

Polymyositis

Dermatomyositis

Myasthenia Gravis

Amyotrophic Lateral Sclerosis (ALS)

Rhabdomyolysis

Cardiomyopathy

Sarcopenia

Muscular System Disease Medications
 

Diagnosis

Muscular dystrophy is a group of genetic diseases that all lead to changes in muscle structure and muscle weakness. There are several genes that are responsible for muscular dystrophy, and to diagnose one of these conditions, your doctor will do blood tests to look for the genes responsible. Other tests and labs that can contribute to a diagnosis include:

  • Creatinine kinase — a muscle enzyme that elevates in the blood when muscle is broken down. It is elevated in muscular dystrophy.
  • Muscle biopsy — a small sample of your muscle can be visualized under a microscope to look for signs of atrophy.
  • Electromyography (EMG) — this test looks at the electrical activity of your nerves that control muscle movement.

Treatment

Once diagnosed with muscular dystrophy, treatment can begin. There is no cure for muscular dystrophy, so treatment focuses on supportive care. Treatments may include:

  • Physical therapy – PT can help strengthen muscles and give you more mobility.
  • Steroids – steroids can delay muscle atrophy and prolong survival in certain types of muscular dystrophy.
  • Mobility aids — walkers, wheelchairs, canes, and more can be used as mobility aids to provide relief and independence to patients.

Muscular dystrophy is a lifelong condition that leads to muscle pain, atrophy and weakness. Along with skeletal muscle involvement, it can cause heart and breathing issues in some patients. Muscular dystrophy patients can live happy lives with the help of mobility aids and a healthcare team that is knowledgeable in treating muscular dystrophy.

 
 
 

Conditions & Medications

References

About

The content appearing on this site is not intended to treat, diagnose, or provide health care advice. The articles you read here are meant for informational purposes only. Please review additional information to learn more.