Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is a condition characterized by progressive muscle weakness as a result of a mutation in dystrophin gene on the X chromosome.  It occurs in 1 per 3500 boys.  This condition was first described in 1860, however the dystrophin gene was not discovered until 1986 by Louis Kunkel, PhD.

What is muscular dystrophy?

Muscular dystrophy is a group of genetic diseases that cause progressive weakness and loss of muscle mass.

Causes of Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is inherited in an X-linked recessive pattern, in which boys inherit the affected X chromosome from their mother.  Females who carry the defective X chromosome are commonly asymptomatic, therefore these affected females are not aware that they are carriers.  About one-third of DMD patients do not inherit the affected X chromosome from their mother, rather it is de novo mutation, which is spontaneous occurrence.

Dystrophin gene is responsible for making a protein called dystrophin protein which is an important component in the cytoskeleton of muscle cells.  Dystrophin proteins anchor the actin cytoskeleton to the sarcolemma membrane which is important in myofibril contractility. With repeated contraction and relaxation of the myofibril, muscle injuries occur overtime due to the instability of the cytoskeleton resulting in muscle fibrosis.  Most noticeable in the calves’ muscle enlargement, often referred to as pseudohypertrophy.

Symptoms

The first symptoms of Duchenne myodystrophy are observed in boys between 1 and 5 years old. In the first year of life, there is noticeable delay in motor milestones in which patients have delay in walking.  

Increasing muscle weakness visibility occurs in the 3rd to 4th year of life. The child quickly gets tired when climbing stairs, and he cannot walk long distances. Over time, the child acquires lordotic gait with curvature of lower back, protuberance of abdomen, and tip toeing. 

As part of muscle weakness, in DMD patients, their heart and lungs are affected leading to cardiopulmonary compromise in the late teens and early twenties.  Other complications associated with DMD are neuropsychiatric challenges such as attention deficit disorders, obsessive compulsive disorder, and in some cognitive impairment. 

Symptoms of Duchenne Muscular Dystrophy

The first step in diagnosing muscular dystrophy (MD) is a visit to a healthcare provider for a physical exam. The healthcare provider will ask a series of questions about the patient’s family history and medical history, including any problems affecting the muscles that the patient may be experiencing.

The healthcare provider may order tests to determine whether the problems are a result of MD and, if so, what form of this disorder. The tests may also rule out other problems that could cause muscle weakness, such as surgery, toxic exposure, medications, or other muscle diseases.

Because there is no known cure for Duchenne Muscular Dystrophy, current clinical trials offer treatments in a manner that allow hope for improvement of patients’ clinical outcome and thereby increasing survival rate. Due to the ongoing clinical trials at our center, we’ve attracted not only patients from our state but also neighboring states as well.

Reasons why females don't suffer from Duchenne myodystrophy.

Mothers of DMD patients who are carriers for the affected X chromosomes are not typically not symptomatic given the fact that they have an extra X chromosome to compensate.  However, some of the similar symptoms can occur in these females, often referred to as “manifesting carrier,” such as muscle cramps, impaired heart function, fatigue and mild weakness.

Diagnosis of Duchenne Dystrophy

  1. The diagnosis of Duchenne dystrophy can be confirmed by genetic testing, but in some cases other studies may be prescribed. Genetic testing is carried out even if the doctor is sure that the patient has muscular dystrophy. Using this method, doctors can determine the precise characteristics of pathological disorders in DNA. In addition to making a diagnosis, such testing will help couples decide about future pregnancies. The genetic testing results will be useful for relatives of those females who carry the mutated gene and give birth to a baby.
  2. Doctors may advise undergoing a muscle fibers biopsy. Such testing will show whether the body produces dystrophin and, if so, in what amount. Biopsy results help doctors determine the exact amount of protein in myocytes. Still, a biopsy cannot be a substitute for genetic testing.a
  3. Creatine kinase blood test. When a person suffers from Duchenne dystrophy, the amount of this enzyme in his blood significantly exceeds the normal level.
  4. Assessment of cardiac performance, the respiratory system, muscle capability, electrocardiography, and determination of cardiac biological markers and bone density.

If specialists suspect that a child has myopathy, it is very important to make a precise diagnosis, as soon as possible. The doctor will prescribe high-quality treatment based on these tests after consulting the parents and explaining the features of the disease.
 

PPMD's Decode Duchenne Program

PPMD’s Decode Duchenne genetic testing program provides free genetic testing and counseling to people who suffer from Duchenne muscular dystrophy. Participants must be living in the United States or Canada. Genetic testing is performed at a designated laboratory, PerkinElmer Genomics.

Learn more about free genetic testing

Treatment of Duchenne Myopathy in Children

Treatment of myotonic syndrome has not yet been developed, which is why doctors are limited to treating symptoms in pediatric neurology. Medications are selected based on the specific situation and the severity of symptoms. 
Crucial importance in the therapeutic plan is given to therapeutic exercises and massage that strengthen the core muscles, and help balance the development of different muscle groups, which improves the quality of life of sick children.

Taking serious motor impairments into account, treatment is supplemented by regular classes in rehabilitation centers using exercise equipment and individual techniques. Children attend classes with a speech therapist to correct articulation issues. In cases of general learning disability, children may need a doctor who specializes in oligophrenia pedagogy or training in a specialized school.

Find out about the active recruitment for clinical trials and research at the RDR Clinic.

Register with PPMD to keep up to date with events related to Duchenne myopathy. After subscribing to our newsletter, you will receive up-to-date information on research in the field of myopathy, care, and international forums. Register

Prognosis and Prevention

Hereditary myotonic syndrome has a dubious prognosis. The average life expectancy of patients is 35 years at early onset of the disease. Specific measures for the prevention of myotonic syndrome have not yet been developed. Families with a history of medical and genetic disorders require medical and genetic counseling. Genetic Counseling

 

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We are eager to help if we can. If we feel we have little to offer, we will tell you this before you commit to a visit. If we feel we can help in some way, we will invite you for the initial 2-3 hour consultation.

 

 

Recommended Resources

The Muscular Dystrophy Association

Cure Duchenne

Parent Project Muscular Dystrophy

Jett Foundation

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