What Is Muscular Dystrophy?

What Is Muscular Dystrophy?

Muscular dystrophy is a condition that causes progressive muscle weakness and loss of muscle mass. It is usually genetic, running in families, but people can also be the first in their family to have it. There are many forms of the disease and no known cure, but treatments are available to manage muscular dystrophy symptoms.

Diagram demonstrating muscular dystrophy as a disease that weakens muscles over time

Types of Muscular Dystrophy

Types

There are several types of muscular dystrophy, including:

  • Duchenne muscular dystrophy (DMD): The most common form of the disease, Duchenne muscular dystrophy symptoms typically first occur in childhood and affect the upper arms and legs first.
  • Becker muscular dystrophy (BMD): People with Becker muscular dystrophy display similar symptoms to those with DMD, but these symptoms usually appear later, even into adulthood.
  • Facioscapulohumeral muscular dystrophy (FSHD): This type of muscular dystrophy causes symptoms that usually show in young adulthood, affecting the face and shoulders first.
  • Congenital muscular dystrophy (CMD): Congenital muscular dystrophy refers to a group of muscular dystrophies in which muscle weakness begins in infancy or very early childhood. (“Congenital” means symptoms are present at birth or soon after.) Symptoms may affect the neck, lungs, upper arms, and legs first.
  • Emery-Dreiffus muscular dystrophy (EDMD): Emery-Dreiffus muscular dystrophy causes symptoms in childhood, and symptoms may first occur in the arms, legs, heart, or joints.
  • Limb-girdle muscular dystrophy (LGMD): Symptoms of Limb-girdle muscular dystrophy may occur during childhood or adulthood, and symptoms may first appear in the upper arms and legs.
  • Myotonic dystrophy: Myotonic dystrophy symptoms can surface at any age and can affect almost any part of the body.
  • Oculopharyngeal muscular dystrophy (OPMD): This type of muscular dystrophy causes symptoms that occur after age 40, and usually appear first in the eyes and throat.

Signs & Symptoms of Muscular Dystrophy

Symptoms

The main symptom of muscular dystrophy is muscle weakness, which can occur in various parts of the body depending on the form of the disease. Other symptoms may be present, including:

  • Difficulty walking or running
  • Unusual gait
  • Enlarged calf muscles
  • Difficulty swallowing
  • Heart problems
  • Muscle tissue pain
  • Frequent falls
  • Toe walking
  • Learning disabilities

Causes of Muscular Dystrophy

Causes

Most forms of muscular dystrophy are caused by gene mutations. Certain genes are involved with making the protein casing that protects muscle fibers, and if one of these genes is defective, the muscles can begin to break down. Most of these gene mutations are hereditary (inherited).

Risk Factors of Muscular Dystrophy

Risk Factors

Since muscular dystrophy is most often inherited, your child is at a higher risk of developing the disease if you have a family history of muscular dystrophy or are a healthy carrier of the gene that causes the disease. Boys are more likely than girls to develop the most common types of muscular dystrophy.

Muscular Dystrophy Prevention

Muscular Dystrophy Prevention

Unfortunately, there is no way to prevent muscular dystrophy. However, in conjunction with treatment options, living a healthy lifestyle can improve your quality of life with the disease. Maintain a healthy diet, do not smoke or drink alcohol, drink lots of water, and maintain a healthy weight to give yourself the best chances of effective treatment.

Complications

Complications

Muscular dystrophy causes muscle weakness and atrophy, which can in turn cause additional complications, including:

  • Trouble walking and using the arms: Movement can become difficult due to weak muscles in the arms and legs.
  • Breathing problems: The muscles that help with breathing become weaker and may atrophy to the point that a ventilator is needed.
  • Heart problems: Muscular dystrophy can reduce the heart’s ability to pump blood.
  • Scoliosis: Also known as a curved spine, scoliosis can occur because atrophied muscles can no longer keep the spine straight.
  • Trouble swallowing: The muscles in the throat and neck may become too weak to allow swallowing, and a feeding tube may be needed in severe cases.
Get Care

Trust NewYork-Presbyterian for Muscular Dystrophy Care

The team at NewYork-Presbyterian has extensive experience identifying the symptoms of muscular dystrophy and other neurological disorders and assessing a person’s risk of the disease based on their family’s medical history. Our doctors can move fast to begin prompt treatment and provide individualized care.