Duchenne Muscular dystrophy

Description

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

There are many types of muscular dystrophy. The symptoms of the variety most common in childhood, especially in children. Other types don't surface until adulthood.

There is No cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease.

Symptoms

The main sign of the duchenne muscular dystrophy is a progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.

Duchenne type muscular dystrophy

This is the most common form. Although girls can be carriers and mildly affected, it is much more common in children.

The signs and symptoms, which usually appear in early childhood and can include:

  • Frequent falls
  • Difficulty getting up from a lying or sitting position
  • Problems to run and jump
  • Waddling gait
  • Walk on the toes of the feet
  • The large muscles of the calf
  • Muscle pain and stiffness
  • Learning disabilities
  • Growth retardation

Becker muscular dystrophy

The signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. The symptoms usually begin in adolescence, but may not occur until the mid-20s or later.

Other types of muscular dystrophy

Some types of muscular dystrophy is defined by a specific feature or by where in the body, symptoms begin. Examples include:

  • Myotonic. This is characterized by an inability to relax the muscles after contraction. Facial and neck muscles are usually the first to be affected. People with this type tend to have long, thin faces; the fall of the eyelids; and a swanlike neck.
  • Facioscapulohumeral (FSHD). The muscle weakness typically begins in the face, the hips and shoulders. The shoulder blades may stick out like wings when arms are raised. Onset usually occurs in adolescence, but can begin in childhood or as late as 50 years of age.
  • Congenital. This type affects boys and girls, and is apparent at birth or before the age of 2 years. Some of the ways to move slowly and cause only a mild disability, while others progress rapidly and cause severe damage.
  • The tip of the sash. The hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy may have difficulty lifting the front part of the foot and, therefore, travel often. Onset usually begins in childhood or adolescence.

When to see a doctor

Consult your doctor if you notice signs of muscle weakness — such as the increase of the awkwardness and the fall — that you or your child.

Causes

Certain genes are involved in the production of proteins that protect the muscle fibers. Muscular dystrophy occurs when one of these genes is defective.

Each form of muscular dystrophy is caused by a genetic mutation particular to that type of disease. The majority of these mutations are inherited.

Risk factors

Muscular dystrophy occurs in both sexes and at all ages and races. However, the most common variety, the Dystrophy, usually occurs in young children. People with a family history of duchenne muscular dystrophy, are at greater risk of developing the disease or passing it on to their children.

Complications

The complications of progressive muscle weakness include:

  • Difficulty walking. Some people with duchenne muscular dystrophy finally, you will need to use a wheelchair.
  • Problems with the use of weapons. Daily activities can become more difficult if the muscles of the arms and shoulders are affected.
  • The shortening of muscles or tendons around the joints (contractures). Contractures may limit mobility even more.
  • Breathing problems. Progressive weakness, which can affect the muscles associated with breathing. People with duchenne muscular dystrophy, eventually, might need to use a breathing assistance device (fan), initially for the night, but possibly also during the day.
  • Curvature of the spine (scoliosis). The weakening of the muscles may be unable to keep the spine straight.
  • The problems of the heart. Muscular dystrophy can reduce the efficiency of the heart muscle.
  • Swallowing problems. If the muscles involved in swallowing are affected, nutritional problems, and aspiration pneumonia may develop. Feeding tubes may be an option.

Duchenne Muscular dystrophy

Diagnosis

Your doctor is likely to start with a medical history and a physical examination.

After that, your doctor might recommend:

  • Tests of the enzyme. Damaged muscles release enzymes, such as creatine kinase (CK) in your blood. In a person who has not had a traumatic injury, high blood levels of creatine kinase (CK) suggest a muscle disease.
  • The genetic testing. Blood samples can be examined for mutations in some of the genes that cause other types of muscular dystrophy.
  • The muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. The analysis of the tissue sample can be distinguished muscular dystrophies from other muscle diseases.
  • The heart of control tests (ekg and echocardiogram). These tests are used to check the function of the heart, particularly in people with a diagnosis of muscular dystrophy, myotonic.
  • Lung of control tests. These tests are used to check lung function.
  • Electromyography. A needle electrode inserted into the muscle to be tested. The electrical activity is measured as you relax and gently tighten the muscle. The changes in the pattern of electrical activity, may confirm a muscle disease.

Treatment

Although there is no cure for any form of muscular dystrophy, the treatment of some forms of the disease can help to prolong the time a person with the disease can remain mobile and help with the heart and the lung of the muscle strength. Trials of new therapies are in progress.

People with muscular dystrophy should be monitored throughout their lives. Your care team should include a neurologist with expertise in neuromuscular diseases, a physical medicine and rehabilitation specialist, and physical and occupational therapists.

Some people may need a lung specialist (pulmonologist), a heart specialist (cardiologist, a sleep specialist, a specialist in the endocrine system (endocrine), an orthopedic surgeon, and other specialists.

Treatment options include medications, physical and occupational therapy, and surgical and other procedures. The assessments in the course of walking, swallowing, breathing, and function of the hand enable the treatment team to adjust treatments as the disease progresses.

Drugs

Your doctor might recommend:

  • Corticosteroids, such as prednisone and deflazacort (Emflaza), that can help the muscle strength and slow the progression of certain types of muscular dystrophy. But the long-term use of these types of drugs can cause weight gain and weakening of the bones, increasing the risk of fracture.
  • The newer drugs include eteplirsen (Exondys 51), the first drug to be approved by the Food and Drug Administration (FDA) specifically for treating some people with Duchenne muscular dystrophy. Was conditionally approved in the year 2016. In 2019, the Food and Drug Administration (FDA) approved golodirsen (Vyondys 53) for the treatment of some people with Duchenne dystrophy who have a certain genetic mutation.
  • Heart medications such as the angiotensin-converting enzyme (ACE) inhibitors or beta-blockers, if muscular dystrophy damages the heart.

The newer drugs include eteplirsen (Exondys 51), the first drug to be approved by the Food and Drug Administration (FDA) specifically for treating some people with Duchenne muscular dystrophy. Was conditionally approved in the year 2016.

In 2019, the Food and Drug Administration (FDA) approved golodirsen (Vyondys 53) for the treatment of some people with Duchenne dystrophy who have a certain genetic mutation.

Therapy

Several types of therapy and assistive devices can improve the quality and, sometimes, the duration of life in people who have duchenne muscular dystrophy. Examples include:

  • The range-of-motion and stretching exercises. Muscular dystrophy can restrict the flexibility and mobility of the joints. Limbs often attract inward and become fixed in that position. The range-of-motion exercises can help keep joints flexible as possible.
  • Exercise. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and overall health. Some types of strengthening exercises might also be helpful. But it is important to talk to your doctor first because some types of exercise can be detrimental.
  • Supports. Braces can help keep your muscles and tendons are stretched and flexible, slowing the progression of contractures. The braces also can help with the mobility and function of the provision of support to the weakening of the muscles.
  • Mobility aids. Canes, walkers and wheelchairs can help to maintain mobility and independence.
  • Respiratory assistance. As the respiratory muscles weaken, a sleep apnea device could help improve the delivery of oxygen during the night. Some people with severe muscular dystrophy need to use a machine that forces air in and out of your lungs (fan).

Surgery

Surgery may be needed to correct contractures or a curvature of the spine, which could eventually make breathing more difficult. The function of the heart can be improved with a pacemaker or other cardiac devices.

The prevention of respiratory infections

Respiratory infections can become a problem in duchenne muscular dystrophy. Thus, it is important to get vaccinated against pneumonia and stay up to date with influenza vaccines. Try to avoid contact with children or adults who have a clear of infection.

Coping and support

A diagnosis of muscular dystrophy can be extremely difficult. To help you deal with the problems, find someone to talk to. You can feel comfortable talking about your feelings with a friend or family member, or you may prefer formal meeting with a support group.

If your child has duchenne muscular dystrophy, ask your doctor about ways to talk about this progressive disease with his son.

Preparing for your appointment

You may be referred to a doctor who specializes in the diagnosis and treatment of duchenne muscular dystrophy.

What you can do

  • Make a note of you or your child has signs and symptoms and when they began.
  • Bring photos or video recordings show the doctor the symptoms that worry you.
  • Write down your key medical information, including other conditions.
  • Make a list of all the medicines, vitamins, and supplements that you or your child is taking, including dosage.
  • Tell your doctor if anyone in your family has been diagnosed with duchenne muscular dystrophy.

Questions to ask your or your child's doctor

  • What is the most likely cause of these signs and symptoms?
  • What tests are needed?
  • What are the possible complications of this condition?
  • What treatments are recommended?
  • What is the long-term prognosis?
  • Do you recommend that our family to meet with a genetic counselor?

Do not hesitate to ask questions during your appointment.

What to expect from your doctor

Your doctor may ask you questions, such as:

  • Are the symptoms get worse?
  • What, if anything, relieved them?
  • What, if anything, makes it worse?
  • Do you plan on having more children?
Symptoms and treatment of duchenne Muscular dystrophy