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Frequently Asked Questions About Duchenne Muscular Dystrophy


<h2>What is Muscular Dystrophy</h2>

What is Muscular Dystrophy

Muscular dystrophy and other related muscle diseases are rare conditions referred to as “neuromuscular disorders.” Neuromuscular disorders are diseases that weaken the body’s muscles. The causes, symptoms, age of onset, severity and progression vary depending on the exact diagnosis and the individual.


<h2>What is Duchenne Muscular Dystrophy</h2>

What is Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy, or (dmd), is a type of muscular dystrophy that causes muscles to weaken as a result of the absence of dystrophin, the protein that keeps muscles healthy and functioning properly. The weakening of the muscles gets worse over time and leads to difficulty in physical function, such as standing up, walking, and in later stages, breathing. Eventually, it can also bring about heart failure.

As these functions become more difficult, it becomes harder for the patient to perform daily activities, and that can lead to a loss of independence. Duchenne muscular dystropy mainly affects boys. However, girls can be affected also, but when they are, they usually do not experience the full effects of the disease in the same way boys do.

Signs of the disease start at a young age and may be noticed when a child has difficulty standing up, climbing, or running. Duchenne affects about 1 of every 3,600 to 6,000 male births worldwide each year.


<h2>What are the symptoms of Duchenne muscular dystrophy</h2>

What are the symptoms of Duchenne muscular dystrophy

Although children with Duchenne appear healthy when they are born, reaching developmental milestones, such as sitting, walking, and talking, is delayed compared with children who do not have Duchenne. Typically between the ages of 2 and 5, children with Duchenne start to show more obvious signs and symptoms of the disease.

Signs and symptoms of Duchenne can include:

  • Frequent falling
  • Calf enlargement
  • An unusual waddle
  • That can include swaying while walking, walking with the feet far apart, and walking on the toes
  • Difficulty keeping up with friends during play and physical activities
  • Weakened reflexes
  • Breathing difficulties
  • Use of Gowers maneuver to get up from the floor or from a chair
  • In some cases, learning and behavior problems, including poor attention and memory skills
  • Delayed speech development
  • Delayed motor development

*Gowers maneuver: Demonstration of muscle weakness. Tend to walk on their toes Have delayed speech development Use their hands and arms to push the body into an upright position (Gowers sign) due to weak hips and thigh muscles This maneuver, specific to getting up from the ground, is secondary to the weakness of the thigh muscles.


<h2>How DMD Changes Over Time</h2>

How DMD Changes Over Time

Duchenne causes muscle weakness, which worsens over time, resulting in increasing difficulty in performing everyday tasks and functions, such as walking, standing, and breathing–all of which can lead to an eventual loss of independence.

Although the progression and severity of symptoms of Duchenne differ for every child, there are several distinct phases of the disease. Those phases may be referred to by different names by doctors, publications, and websites.

As the symptoms progress over time, so do the care needs of someone living with Duchenne. Although there is no cure for Duchenne, disease management strategies exist that can help maintain muscle function and slow the progression of the disease. Those interventions may help improve a patient’s quality of life.

It is important to report any symptoms to your child’s doctor as soon as possible to help minimize delays in diagnosis and ensure that your child is receiving the necessary testing.


<h2>How do we diagnose Duchenne</h2>

How do we diagnose Duchenne

Diagnosing Duchenne requires 3 steps

Step 1 — Observing signs and symptoms

Those observations can be made by:

  • A parent or other family member
  • A child’s pediatrician or family doctor
  • A school nurse or teacher
  • A physical therapist or other specialist who provides care to children with the specific challenges associated with Duchenne muscular dystrophy

Observations may include:

  • Difficulty running, jumping, climbing stairs compared with other children of similar age
  • Gowers maneuver
  • Speech delay, abnormal gait (way of walking), frequent falling, walking on tip-toes, enlarged calf muscles

 

Step 2—Blood tests to determine enzyme levels
If signs and symptoms of Duchenne are observed, a doctor may recommend blood tests. Blood tests show whether certain blood levels fall within a normal range. A doctor may check levels of the liver enzymes aspartate aminotransferase (AST) and alanine aminotransferase (ALT), high levels of which can result from muscular dystrophies.
CK is an enzyme that is found in the heart, brain, skeletal muscle, and other tissues in the body. High levels of CK indicate muscle damage.

Range of CK levels
22-198 U/L : Normal range
3,000-3,500+ U/L : Duchenne muscular dystrophy
CK is an enzyme released from muscle when it is damaged. If a child has a high CK level, he or she should be taken, as soon as possible, to a neuromuscular specialist to confirm or rule out a diagnosis of Duchenne with the use of genetic testing. Elevated levels of CK are also seen in people with other muscle diseases and are not enough to diagnose DMD.

Step 3 — Genetic tests
Genetic testing is used to confirm the majority of Duchenne diagnoses and can be done with a simple blood test. Full gene sequencing can help identify the specific type of mutation that is causing a child’s Duchenne muscular dystrophy, and that can affect how the condition is managed.

Other tests that have been used to diagnose Duchenne include muscle biopsies and electromyography (EMG). An EMG is a test that checks the health of the muscles or nerves that control them. Muscle biopsy and EMG are becoming less common as a means to diagnose Duchenne. A muscle biopsy cannot determine the exact mutation that is causing Duchenne.

Talk to your doctor about genetic testing.


<h2>Getting a confirmed diagnosis as soon as possible is important because:</h2>

Why is it important to diagnose Duchenne as early as possible?

Getting a confirmed diagnosis as soon as possible is important because:

  • The earlier treatment and management strategies are started, the better the chance of preserving muscle strength and function for a longer period of time
  • This makes it possible to move quickly to genetic testing, the results of which will help identify the specific mutation that causes dmd, opening the door to more targeted management of the disease.
  • can allow parents to make informed family-planning decisions
  • can help determine the specific mutation that caused Duchenne, providing the opportunity to manage the disease with a more targeted approach

<h2>What management strategies are currently available for DMD?</h2>

What management strategies are currently available for DMD?

Current disease management strategies focus on maintaining muscle function for as long as possible and managing the symptoms of Duchenne. Those strategies include:

Corticosteroids (steroid medications)

Corticosteroids are the most commonly used treatment for Duchenne. While they do not address the underlying cause of the disease, they can help manage the symptoms of the disease by preserving muscle strength and movement, and by minimizing later complications, such as scoliosis (a curvature of the spine) and trouble breathing.

It is important to monitor children who take steroids over a long period of time because the drugs can cause serious side effects. Speak with your doctor for more information about these side effects.

Deflazacort, a glucocorticoid used as an anti-inflammatory and immunosuppressant is recognized as a safe, effective and promising treatment for Duchenne muscular dystrophy, by this study from the University of Rochester.

The corticosteroid prednisone or prednisolone in previous studies have shown that daily use of corticosteroids can increase muscle mass and slow muscle degeneration in patients with Duchenne muscular dystrophy, prolong their ability to walk over time and preserve their respiratory function. However, many affected patients do not receive these corticosteroid treatments, mainly because of possible side effects with prolonged use, especially in children.

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