Muscular dystrophy

What is muscular dystrophy (MD)?

Muscular dystrophy (MD) is a group of inherited diseases that are characterized by weak muscles that get progressively weaker with age.

MD mainly affects the skeletal muscles. In some types of MD, the heart muscle is affected. In others, mental ability may be reduced. In late stage MD, fat and connective tissue can replace muscle fibers.

There are different types of MD. Duchenne muscular dystrophy (DMD) is the most common and most serious form of MD. DMD mainly affects boys and appears before five years of age. DMD is characterized by muscle wasting and poor walking ability. Most boys with DMD end up completely dependent on wheelchairs by 13 years of age and will eventually have difficulty breathing. Other forms of MD can be much less severe.

There is no cure for MD, but medications and therapy can improve your child's quality of life.

Signs and symptoms of muscular dystrophy

Signs and symptoms differ for every child. Symptoms depend on the type of MD. The main symptom of MD is weakness of the affected muscles. This weakness may cause your child to:

• walk later than most children the same age (over 18 months of age)
• waddle
• have difficulty climbing stairs
• fall easily

Other symptoms may include:

• unable to jump
• enlarged calf muscles
• walking on toes
• weakness of the shoulders and arms
• inward curvature of the lower spine
• difficulty getting up after falling
• weakness of other muscles like the shoulder or face

Causes of muscular dystrophy

MD is due to a defective gene. The genetic mutation is passed on from one or both parents to a child.

With DMD, the defective gene is carried by the mother. A boy born to a woman who carries the DMD gene has a 50% chance of having the disorder.

Other types of muscular dystrophy can be inherited through the mother, father or both parents.

What a doctor can do to help your child with muscular dystrophy

Your child's doctor will physically examine your child. The doctor may also review your family's history of muscle disease. Blood tests and other tests may be ordered.

The doctor may order a muscle biopsy. This is when the doctor removes a small piece of muscle tissue and examines it under a microscope.

Once an MD diagnosis is confirmed, your child will be referred to therapists for supportive treatment. Physiotherapy may help to stretch your child's muscles. Aids like braces can help straighten muscles. Other treatments may be recommended if your child has scoliosis.

As the condition progresses, your child may need assistance moving and breathing. Wheelchairs and ventilators are common aids used to help adolescents with MD.

What you can do to help your child

Ask for guidance and assistance from the team of medical specialists working with you and your family. Since children with MD pass through different stages, it is important to have good communication and support from your medical team.

You may need to help your child with physical therapy to improve flexibility. You may have to teach your child how to use a wheelchair, braces or scooter so they can be mobile. Eventually you may have to set up a ventilator to help your child breathe.

Whenever possible, try to give your child independence and the ability to enjoy social situations with other children. It may be helpful to other children at school if they learn about MD from you, the teacher or a school nurse.

When to seek medical assistance

Make an appointment with your child's doctor immediately if your child shows any signs or symptoms of MD.