HomeHealth TopicsGenetics Birth DefectsMuscular Dystrophy
Back to Genetics Birth Defects
Muscular Dystrophy
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Muscular Dystrophy

Muscular dystrophy (MD) is a group of more than 30 genetic diseases that cause progressive muscle weakness and can impact daily activities and organ function.

What is muscular dystrophy (MD)?

Muscular dystrophy (MD) is a group of more than 30 genetic diseases. They cause weakness of the muscles. Over time, the weakness gets worse and can cause trouble walking and doing daily activities. Some types of MD can also affect other organs.

What are the types of muscular dystrophy (MD)?

There are many different types of MD. Some of the more common types include:

  • Duchenne muscular dystrophy, which is the most common childhood form. It is severe and affects boys more often than girls. The symptoms usually start between ages 3 and 6.
  • Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. It often starts in the teenage years.
  • Congenital muscular dystrophies, which are present at birth or before age 2. They can be mild or severe.
  • Facioscapulohumeral muscular dystrophy, which often starts in the teenage years. At first, it affects the muscles of the face, shoulders, and upper arms.

Each of the types of MD can be different in many ways, such as:

  • Who is more likely to get them
  • Which muscles they affect
  • When they appear, such as in infancy, childhood, middle age, or later
  • What the symptoms are
  • How serious the symptoms are
  • How quickly they get worse
  • Whether they run in families
  • Whether they affect other organs

Even within the same type of MD, people can have different symptoms.

What causes muscular dystrophy (MD)?

MD is genetic, meaning that it is caused by a change in one or more genes. Gene changes are also called gene variants or mutations. The gene changes in MD affect proteins that strengthen and protect muscles.

There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can have different gene changes. Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy.

How is muscular dystrophy (MD) diagnosed?

To find out if you or your child has MD, your health care provider may use:

  • A medical and family history
  • A physical exam
  • Blood and urine tests, including genetic tests and tests for certain enzymes that may be released by damaged muscles
  • Muscle biopsies
  • Electromyography and nerve conduction studies to find out if muscles are responding the right way to nerve signals
  • Heart testing, such as an electrocardiogram (EKG), since some types of MD can cause heart problems
  • Exercise tests to measure muscle strength and breathing and detect any increased rates of certain chemicals following exercise
  • Imaging tests such as an MRI to look at muscle quality and bulk and measure fatty replacement of muscle tissue

What are the treatments for muscular dystrophy (MD)?

There is no cure for muscular dystrophy. Treatment can help with the symptoms and prevent complications. It usually includes a combination of therapies, such as:

  • Physical therapy to help keep muscles flexible and strong
  • Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles
  • Respiratory care, such as breathing exercises, oxygen therapy, and ventilators
  • Speech therapy to help with speech and swallowing problems
  • Assistive devices, such as wheelchairs, splints and braces, and walkers
  • Medicines to help delay damage to muscles or minimize the symptoms of MD
  • Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts

Frequently Asked Questions

Early signs often appear between ages 3 and 5 and may be mistaken for normal developmental delays. Common indicators include difficulty running, jumping, or climbing stairs, and a tendency to fall frequently. A specific sign called Gowers' maneuver, where a child uses their hands to "walk" up their own legs to stand from the floor, is a classic indicator. Parents may also notice calf muscles that appear larger than normal (pseudohypertrophy) due to fat and connective tissue replacing muscle. If you notice these signs, a creatine kinase (CK) blood test, which is often significantly elevated in MD, can help prompt further genetic testing.
Most common forms of MD, such as Duchenne and Becker, are X-linked recessive, meaning they are passed through the X chromosome. This primarily affects males, while females are typically carriers. If a mother is a carrier, there is a 50% chance of passing the gene to a son (who will likely be affected) and a 50% chance to a daughter (who will likely be a carrier). Genetic counseling is highly recommended for family planning. Preimplantation genetic testing (PGT) during IVF or prenatal diagnosis via amniocentesis or chorionic villus sampling can help identify affected embryos or fetuses. For families with autosomal dominant forms of MD, the inheritance pattern differs, and a 50% risk applies to all children regardless of sex.
There is currently no cure for most forms of muscular dystrophy, but treatments have advanced significantly to slow progression and manage symptoms. For Duchenne MD, corticosteroids are the standard treatment to maintain muscle strength. Gene therapy is a rapidly developing field, with recent FDA approvals for specific gene therapies that can restore some dystrophin production. Other treatments include exon skipping drugs, which help the body produce a functional protein. Physical therapy, occupational therapy, and assistive devices are crucial for maintaining mobility and independence. Clinical trials are ongoing, so staying connected with a specialized MD center is important for accessing new therapies.
Depending on the type of MD, the disease can impact the heart and lungs. In Duchenne and Becker muscular dystrophy, cardiomyopathy (heart muscle weakness) is a major concern and can develop even before significant muscle weakness is apparent. Regular echocardiograms and EKGs are essential for monitoring heart health. Respiratory function can also decline, leading to difficulty breathing, especially during sleep. Pulmonary function tests are used to track lung capacity. Early intervention with cardiac medications and respiratory support, such as non-invasive ventilation, can improve quality of life and extend survival.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss