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.
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.
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.
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.
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.
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 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.
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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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The Muscular Dystrophy Association