MUSCULAR DYSTROPHY

MUSCULAR DYSTROPHY

Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's muscles. It's caused by incorrect or missing genetic information that prevents the body from making the proteins it needs to build and maintain healthy muscles.
A child who is diagnosed with MD gradually loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other health problems.
There are several major forms of muscular dystrophy, which can affect a child's muscles in different levels of severity. In some cases, MD starts causing muscle problems in infancy, while in others, symptoms don't appear until adulthood.

SYMPTOMS OF MUSCULAR DYSTROPHY

A child who has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk (walk on the toes without the heels hitting the floor). A child may start to struggle to get up from a sitting position or have a hard time pushing things, like a wagon or a tricycle. It is also common for a young child with MD to develop enlarged calf muscles, a condition called calf pseudohypertrophy, as muscle tissue is destroyed and replaced by fat.

DIAGNOSIS

When a doctor first suspects that a child has muscular dystrophy, he or she probably will do a physical exam, take a family history, and ask about any problems - particularly those affecting the muscles - that the child might be experiencing.
In addition, the doctor may perform a series of tests to determine what type of MD a child may have and to rule out any other diseases that may be causing a problem. This might include a blood test to measure levels of serum creatine kinase, an enzyme that's released into the bloodstream when muscle fibers are deteriorating. Elevated levels of this enzyme indicate that something is causing muscle damage.
The doctor also may do a blood test to check a child's DNA for gene abnormalities, or a muscle biopsy to examine a muscle tissue sample for patterns of deterioration and abnormal levels of dystrophin, a protein that helps muscle cells keep their shape and length. Without dystrophin, the muscles break down.

TYPES OF MUSCULAR DYSTROPHY

The different types of muscular dystrophy affect different sets of muscles and result in different degrees of muscle weakness.

DUCHENNE muscular dystrophy is the most common and the most severe form of the disease. It affects about 1 out of every 3,500 boys. (Girls can carry the gene that causes the disease, but they usually have no symptoms.) This form of MD occurs because of a problem with the gene that makes dystrophin. Without this protein, the muscles break down and a child becomes weaker.
In cases of Duchenne muscular dystrophy, symptoms usually begin to appear around age 5, as the pelvic muscles begin to weaken. Most kids with this form of MD need to use a wheelchair by age 12. Over time, their muscles weaken in the shoulders, back, arms, and legs. Eventually, the respiratory muscles are affected, and a ventilator is required to assist breathing. Kids who have Duchenne muscular dystrophy typically have a life span of about 20 years.

BECKERS muscular dystrophy is similar to Duchenne, but it is less common and progresses more slowly. This form of MD affects approximately 1 in 30,000 boys. It too is caused by insufficient production of dystrophin

MYOTONIC dystrophy, also known as Steinert's disease, is the most common adult form of muscular dystrophy, although half of all cases are diagnosed in people who are younger than 20 years old. It is caused by a portion of a particular gene that is larger than it should be. The symptoms can appear at any time during a child's life

LIMB-GIRDLE muscular dystrophy affects boys and girls equally. Typically, symptoms begin when kids are between 8 and 15 years old. This form of MD progresses slowly, affecting the pelvic, shoulder, and back muscles. The severity of muscle weakness varies from person to person. Some kids develop only mild weakness while others develop severe disabilities and as adults need a wheelchair to get around.

FASCIOSCAPULOHUMERAL muscular dystrophy can affect both boys and girls, and the symptoms usually first appear during the teen years. This form of muscular dystrophy tends to progress slowly.

CARING THE KID

If your child is diagnosed with muscular dystrophy, a team of medical specialists will work with you and your family. That team will likely include: a neurologist, orthopedist, pulmonologist, physical and occupational therapist, nurse practitioner, cardiologist, registered dietician, and a social worker.
Muscular dystrophy is often degenerative, so kids may pass through different stages as the disease progresses and require different kinds of treatment. During the early stages, physical therapy, joint bracing, and the medication prednisone are often used. During the later stages, doctors may use assistive devices such as:
physical therapy and bracing to improve your child's flexibility
power wheelchairs and scooters to improve your child's mobility
a ventilator to support your child's breathing
robotics to help your child perform routine daily tasks