What is muscular dystrophy?
Muscular dystrophy, also known as MD, is made up of more than 30 inherited diseases that damage and weaken the muscles. Over time, this can lead to atrophy and muscle loss.
Most forms of muscular dystrophy appear in infancy or childhood, while others may not develop until later. It’s more likely to affect men than women. Different types can lead to different symptoms, including difficulty walking, swallowing, and muscle coordination. All forms of muscular dystrophy grow worse with age, typically as the person’s muscles get weaker.
The prognosis for muscular dystrophy depends on the person and the type of disease. Most people with muscular dystrophy will eventually lose the ability to walk and may require a wheelchair.
Muscular dystrophy life expectancy can range depending on the condition. While there’s no known cure for muscular dystrophy, some treatments can help, including physical therapy, orthopedic devices, surgery, and medications.
Symptoms of muscular dystrophy
The main symptoms of muscular dystrophy are progressive muscle weakness, damage, and loss.
More specific symptoms may emerge in different muscle groups, depending on the type of disease. The different types of muscular dystrophy can vary in symptoms and severity. These are just a few of the most common forms of muscular dystrophy:
Duchenne muscular dystrophy
Duchenne muscular dystrophy is the most common form of muscular dystrophy. It typically develops from a very young age and is more common in boys than girls.
Symptoms can include:
- Difficulty walking
- Difficulty standing up or lying down
- Loss of reflexes
- Trouble running and jumping
- Poor posture
- Waddling gait
- Walking on the toes
- Enlarged calf muscles
- Muscle pain and stiffness
- Delayed growth
- Scoliosis (abnormal curvature of the spine)
- Breathing difficulties
- Lung and heart weakness
- Learning disabilities
People with Duchenne muscular dystrophy typically require the use of a wheelchair during their early teenage years. The life expectancy for people with Duchenne muscular dystrophy is late teens or early 20s.
Becker muscular dystrophy
While less severe than Duchene muscular dystrophy, Becker muscular dystrophy has many of the same symptoms. It also commonly affects boys, typically emerging between age 11 to 25.
Many symptoms overlap with Duchenne muscular dystrophy, but it can also include:
- Muscle weakness mostly in arms and legs
- Frequent falls
- Muscle cramps
- Walking on the toes
- Difficulty getting up from the floor
People with this disease typically don’t need a wheelchair until their mid-30s or older. A small percentage may never require one. The life expectancy is typically around middle age or older.
Myotonic muscular dystrophy
Myotonic muscular dystrophy, or Steinert’s disease, leads to myotonia, which impacts your ability to relax your muscles after they contract. This primarily affects the facial muscles, although it can also affect the heart, nervous system, and gastrointestinal tract.
Symptoms can include:
- Drooping facial features
- Difficulty lifting the neck
- Difficulty swallowing
- Ptosis (drooping eyelids)
- Baldness in the front of the scalp
- Poor vision or cataracts
- Increased sweating
- Weight loss
- Impotence or infertility
Myotonic dystrophy is most common in adults in their 20s and 30s. Life expectancy can vary depending on the person—some experience mild symptoms while others may face life-threatening complications involving the heart and lungs.
Congenital muscular dystrophy
Congenital muscular dystrophy typically becomes diagnosed early in life, between birth and age 2. Symptoms may include:
- Muscle weakness
- Poor motor control
- Difficulty sitting or standing
- Foot deformities
- Difficulty swallowing
- Difficulty breathing
- Vision problems
- Speech impediments
- Learning disabilities
While the symptoms can depend from person to person, the majority of people with congenital muscular dystrophy have difficulty sitting, standing, or walking without help. The life expectancy can depend on the severity of the symptoms or how fast the disease progresses. Some may die in infancy, while others live until late adulthood.
Causes of muscular dystrophy
In most cases, muscular dystrophy is a genetic disease that runs in families. It typically develops after inheriting a gene from one or more parents.
Muscular dystrophy is caused by mutations (alterations) in the genes that support healthy muscle structure and function. These mutations can lead to progressive muscle weakening, loss of muscle, and in some cases, death.
Diagnosis for muscular dystrophy
A number of different tests are used to diagnose muscular dystrophy. A doctor or healthcare professional may perform blood tests to detect the enzymes released by damaged muscles or to check for the genetic signs of muscular dystrophy. They can also use an electromyography test to monitor your muscle’s electrical activity or a muscle biopsy to take a sample of your muscle tissue.
Treatments for muscular dystrophy
While there is currently no cure for any form of muscular dystrophy, treatments can help manage symptoms. Through therapy, surgeries, and medication, people with these conditions can reduce symptoms and potentially slow the progression of muscle deterioration.
Treatments can include:
A combination of physical activity and stretching exercises can maintain flexibility and strength in the muscles.
For those with muscular dystrophy that affects the lungs or throat, respiratory therapy can help prevent or delay respiratory problems.
Those with muscular dystrophy that leads to weakness in the facial, throat, and neck muscles may benefit from speech therapy. These exercises can improve speech, strengthen facial muscles, and prevent muscle loss.
Occupational therapy can help people with muscular dystrophy perform day to day tasks with weakened muscles and practice their motor skills. It can also help people learn to use assistive devices like wheelchairs, eating utensils, and more.
Depending on the type of muscular dystrophy, some may need surgery to treat some symptoms. For example, some people may need pacemakers installed, cataracts removed, or corrective surgery for scoliosis.
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NHS: "Causes: Muscular Dystrophy"
NHS: "Diagnosis: Muscular Dystrophy"
Muscular Dystrophy Association: "Becker Muscular Dystrophy (BMD)"
Muscular Dystrophy Association: "Congenital Muscular Dystrophy (CMD) "
Muscular Dystrophy Association: "Duchenne Muscular Dystrophy (DMD)"
Muscular Dystrophy Association: “Myotonic Dystrophy"
Muscular Dystrophy Association: "Find a Neuromuscular Disease"
Pediatrics: "Prevalence of Duchenne and Becker Muscular Dystrophies in the United States"
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