Muscular Dystrophy

Dr. Ankur Gupta
Muscular dystrophy (MD) is a broad term that describes a genetic (inherited) disorder of the muscles. Muscular dystrophy causes the muscles in the body to become very weak. The muscles break down and are replaced with fatty deposits over time.
Other health problems commonly associated with muscular dystrophy include the following:
* Heart problems
* Scoliosis – a lateral, or sideways, curvature and rotation of the back bones (vertebrae), giving the appearance that the person is leaning to one side.
* Obesity
Some forms of MD first appear in infancy or early to late childhood, while others may not appear until adolescence, middle-age, or later. The most common forms of muscular dystrophy are Duchene muscular dystrophy (DMD) and Becker muscular dystrophy. The two forms are very similar, but Becker muscular dystrophy is less severe than DMD. Girls are rarely affected by either of these two forms of muscular dystrophy.
What causes muscular dystrophy?
Duchene muscular dystrophy is a genetic disease which means it is inherited. Our genes determine our traits, such as eye color and blood type. Genes are contained in the cells of our bodies on stick-like structures called chromosomes. There are normally 46 chromosomes in each cell of our body, or 23 pairs. The first 22 pairs are shared in common between males and females, while the last pair determine gender and are called the sex chromosome pair: females have two X chromosomes, while males have one X and one Y chromosome.
Duchene muscular dystrophy is caused by an X-linked recessive gene. “X-linked” means that the gene causing the trait or the disorder is located on the X chromosome. Genes on the X chromosome can be recessive or dominant, and their expression in females and males is not the same because the genes on the Y chromosome do not exactly pair up with the genes on the X. X-linked recessive genes are expressed in females only if there are two copies of the gene (one on each X chromosome). However, for males there only needs to be one copy of an X-linked recessive gene in order for the trait or disorder to be expressed. For example, a woman can carry a recessive gene on one of the X chromosomes unknowingly, and pass it on to a son, who will express the trait or disease.
Therefore, half of the daughters have the gene and can pass it to the next generation. The other half does not have the gene and therefore cannot pass it on. Half of the sons do not have the gene and cannot pass it on. The other halves of the sons have inherited the gene and will express the trait or disorder (in this case, DMD).
Symptoms of muscular dystrophy?
Muscular dystrophy is usually seen in children before the age of five, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms. The following are the most common symptoms of muscular dystrophy. However, each individual may experience symptoms differently. Symptoms may include:
* clumsy movement
* difficulty climbing stairs
* frequently trips and falls
* unable to jump or hop normally
* tip toe walking
* leg pain
* facial weakness
* inability to close eyes or whistle
* shoulder and arm weakness
A tell-tale clinical characteristic for Duchene muscular dystrophy (DMD) is Gower’s’ sign. Children with Duchene muscular dystrophy find it very hard to get up from a sitting or lying position on the floor. They first pull up to their hands and knees. The child walks his/her hands up their legs to brace themselves as they rise to a standing position.
Another classic symptom of muscular dystrophy is known as the “slip through” symptom. Your child’s physician puts his/her hands around the sides of the child’s chest, right up under the arms. As the child is lifted up, the shoulders weaken and move upward, almost allowing the child to slip through the physician’s hands.
In addition, children with muscular dystrophy often have very large calf muscles due to the large amounts of fatty deposits that are replacing muscle.
The symptoms of muscular dystrophy may resemble other conditions or medical problems. Always consult your child’s physician for a diagnosis.
Diagnosis
The diagnosis of muscular dystrophy is made with a physical examination and diagnostic testing by your child’s physician. During the examination, your child’s physician obtains a complete prenatal and birth history of the child and asks if other family members are known to have muscular dystrophy.
Treatment
Specific treatment for muscular dystrophy will be determined by your child’s physician based on:
* your child’s age, overall health, and medical history
* extent of the condition
* type of condition
* your child’s tolerance for specific medications, procedures, or therapies
* expectations for the course of the condition
* your opinion or preference
To date, there is no known treatment, medicine, or surgery that will cure muscular dystrophy, or stop the muscles from weakening. The goal of treatment is to prevent deformity and allow the child to function as independently as possible.
Since muscular dystrophy is a life-long condition that is not correctable, management includes focusing on preventing or minimizing deformities and maximizing the child’s functional ability at home and in the community.
Management of muscular dystrophy is either non-surgical or surgical. Non-surgical interventions may include:
* physical therapy
* Acupressure therapy (acupressure therapy pays very important role in muscular dystrophy).
* braces and splints (to prevent deformity, promote support, or provide protection)
* nutritional counseling
* psychological counseling
* medications
Surgical interventions may be considered to manage the following conditions:
* scoliosis (a sideways curvature of the back bones) associated with muscular dystrophy
* maintaining the child’s ability to sit or stand
(The author is an Acupressure Therapist)

LEAVE A REPLY

Please enter your comment!
Please enter your name here