What is muscular dystrophy?

A condition of the muscles that are genetic (inherited) is referred to as Muscular Dystrophy (MD). Because of muscular dystrophy, the body's muscles deteriorate rapidly. Over time, the muscles deteriorate and are replaced by fatty deposits.

The following are some other health issues that muscular dystrophy is frequently linked to:

• Heart problems
• Scoliosis. A person's back bones (vertebrae) rotate and curve laterally, or sideways, giving the impression that they are slouching.
• Obesity

Duchenne Muscular Dystrophy (DMD) and Becker muscular dystrophy are the two most prevalent types of the disease. Despite the fact that Becker's muscular dystrophy is less severe than DMD, the two kinds are quite similar. Neither of these two types of muscular dystrophy commonly affects girls.

What causes muscular dystrophy?

Because Duchenne muscular dystrophy is a genetic condition, it is passed down via families. Our qualities, such as eye color and blood type, are determined by our genes. Our bodies' cells contain genes on chromosomes, which are stick-like structures. Each of our body's cells typically has 23 pairs of chromosomes or 46 chromosomes. Males and females share the first 22 pairs in common, but the final pair—known as the sex chromosome pair—determines gender. Females have two X chromosomes, whereas males have one X and one Y chromosome.
An X-linked recessive gene is responsible for Duchenne muscular dystrophy. The term "X-linked" refers to a characteristic or illness that is caused by a gene that is found on the X chromosome. Because the genes on the Y chromosome do not perfectly match the genes on the X, genes on the X chromosome might be recessive or dominant, and their expression in males and females differs. Only when the gene is present in two copies in females do X-linked recessive genes express themselves (one on each X chromosome). However, for males, the expression of an X-linked recessive trait or condition only requires the presence of one copy of the gene.

What are the symptoms of muscular dystrophy?

Typically, children with muscular dystrophy are diagnosed between the ages of 3 and 6 years old. Early indications of the condition include a delay in walking, trouble getting up from a sitting or lying posture, and frequent falls; one of the early symptoms is often weakness in the shoulder and pelvic muscles. The most typical signs and symptoms of muscular dystrophy are listed below. However, each child may present with different symptoms. Some signs could be:

• 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

Gowers' sign is a defining clinical feature of Duchenne Muscular Dystrophy (DMD). Children with Duchenne muscular dystrophy have a very difficult time standing or sitting up from a floor posture. At first, they approach on their hands and knees. In order to steady themselves when they stand up, the child walks their hands up their legs.

Additionally, because so much fat is replacing muscle in children with muscular dystrophy, their calves are frequently exceedingly big.

Muscular dystrophy symptoms can resemble those of other illnesses or disorders. For a diagnosis, always consult your child's doctor.

How is muscular dystrophy diagnosed?

Your child's doctor will perform a physical examination and diagnostic tests to determine whether your child has muscular dystrophy. During the examination, the doctor asks about the child's whole pregnancy and birth history as well as whether any other members of the child's family have been diagnosed with muscular dystrophy.

Among the diagnostic procedures for muscular dystrophy are:

• Blood tests- Blood testing for genetics is among them.
• Muscle biopsy- The main examination is done to validate the diagnosis. A tiny piece of muscle tissue is extracted and looked at up close under a microscope.
• Electromyogram (EMG)- A test to see if nerve injury or muscle tissue loss is the cause of muscle weakness.
• Electrocardiogram (ECG or EKG)- A test that captures the heart's electrical activity, reveals irregular heartbeats (arrhythmias or dysrhythmias) and looks for heart muscle injury.

Treatment for muscular dystrophy

Your child's doctor will decide on a specific course of treatment for muscular dystrophy based on:

• The age, general health, and medical background of your child
• The severity of the condition; the nature of the ailment; your child's tolerance for particular treatments, operations, or drugs; expectations for how the condition will progress; and your choice or opinion.

There is currently no recognized cure for muscular dystrophy or a way to prevent the muscles from deteriorating. Prevention of deformity and maximum independence for the child are the objectives of treatment.

Since muscular dystrophy is an incurable, lifelong disorder, managing it entails concentrating on deformity prevention or minimization as well as improving the child's functional capacity at home and in the community.

Muscular dystrophy can be treated surgically or non-surgically. Nonsurgical treatments could consist of:

• Physical therapy
• Positioning aids are used to help the child sit, lie, or stand
• Braces and splints used to prevent deformity, promote support, or provide protection
• Medications
• Nutritional counseling
• Psychological counseling

The following conditions may be managed with surgical interventions:

• Scoliosis, a muscular dystrophy-related lateral curvature of the spine
• Preserving the child's capacity for sitting or standing