duchenne

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.

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.

MD is genetic, meaning that it 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.

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

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

NIH: National Institute of Neurological Disorders and Stroke

A disability is any condition of your body or mind that makes it more difficult for you to do one or more major life activities and interact with the world around you.

There are many types of disabilities, such as those that can affect your:

• Vision
• Hearing
• Movement
• Thinking
• Remembering
• Learning
• Communicating
• Development
• Mental health
• Social relationships

More than 1 in 4 adults in the United States have some type of disability. Even though they all have disabilities, they can have a wide range of needs. For example, even people who have same type of disability can be affected in very different ways. Also, some disabilities are "visible" (easy to see), for example when someone is in a wheelchair. But other disabilities are "invisible" (hidden or not easy to see), such as problems with hearing, thinking, or learning.

Disabilities can have different causes. Some disabilities are present at birth, while others may happen later in life.

Causes of disabilities that are present at birth can include:

• Disorders in single genes, such as Duchenne muscular dystrophy
• Disorders of chromosomes, such as Down syndrome
• Exposures (before birth) to infections or substances, such as drugs, alcohol, or cigarettes

Causes of disabilities that happen later in life can include:

• Injuries, such as spinal cord injuries, traumatic brain injuries (TBIs), and back injuries
• Chronic (long-lasting) diseases, such as diabetes, heart disease, kidney disease, COPD, and arthritis
• Cancer
• Mental health problems
• Stroke
• Alzheimer's disease and other causes of dementia

Having a disability does not mean a person cannot be healthy. In fact, many people with disabilities report that their health as good or better. But they may have or be at risk of health problems related to their disability, called "secondary conditions." These conditions may include:

• Bowel or bladder problems
• Chronic pain
• Diabetes
• Fatigue
• Heart disease
• Injuries
• Mental health problems, including depression and substance use disorders
• Overweight and obesity
• Pressure sores or ulcers

Many of these conditions can be prevented, and there are treatments for them. It's also important for people with disabilities to get health care that meets their needs as a whole person, not just as a person with a disability.

Just like for people who don't have a disability, having a healthy lifestyle is important for people who do have a disability. A healthy lifestyle includes:

• Getting regular physical activity
• Eating healthy foods in healthy portions
• Limiting sun exposure and using sunscreen to prevent skin cancer
• Not smoking, and if needed, getting help to quit smoking
• Using medicines wisely
• Not drinking alcohol or drinking in moderation
• Getting help for any substance use or mental health problems
• Staying in touch with family and friends

Managing a disability can sometimes be challenging. There are resources that can help:

• Assistive devices and mobility aids can make daily tasks easier.
• Schools can develop plans around the specific needs of a child with a disability. The goal of the plans is to give the child an opportunity to perform at the same level as other children their age.
• Support networks, such as disability organizations, can help you learn more about resources for you and your family. Support groups can help you connect with other people who have the same disability. They can provide emotional and social support. They are also a place where people can share tips about how to deal with day-to-day challenges.
• Government programs may provide benefits, job training, employment resources, and protection against discrimination.

Centers for Disease Control and Prevention