MUSCLE DYSTROPHY(MD) DEFINITION Muscular dystrophy (MD) is a genetic disorder that weakens the muscles.

They have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The life expectancy depends on the degree to which a person's muscles are weakened as well as how much the heart and lungs are affected. TYPES OF MD 1. Duchenne muscular dystrophy(DMD), is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Symptoms usually start between ages 2 and 6. By age 10 or 12, kids with DMD often need to use a wheelchair. The heart may also be affected, and people with DMD need to be followed closely by a lung and heart specialist. They can also develop scoliosis (curvature of the spine) and tightness in their joints. Over time, even the muscles that control breathing get weaker, and a person might need a ventilator to breathe. 2. Becker muscular dystrophy (BMD), like DMD, affects boys. The disease is very similar to DMD, but its symptoms may start later and can be less severe. May have faulty or not enough dystrophin. Symptoms like muscle breakdown and weakness sometimes don't begin until age 10 or even in adulthood. They can also have breathing, heart, bone, muscle, and joint problems. Many people with BMD can live long, active lives without using a wheelchair.

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Emery-Dreifuss muscular dystrophy (EDMD) typically starts causing symptoms in late childhood to early teens and sometimes as late as age 25. affects mostly boys. It involves muscles in the heart, shoulders, upper arms, and shins, and it often causes joint problems (joints can become tighter). Limb-girdle muscular dystrophy (LGMD) affects boys and girls equally, weakening muscles in the shoulders and upper arms and around the hips and thighs. can begin as early as childhood or as late as mid-adulthood, and it often progresses slowly. Facioscapulohumeral muscular dystrophy (FSHD) can affect both guys and girls, and it usually begins during the teens or early adulthood. affects muscles in the face and shoulders and sometimes causes weakness in the lower legs. They might have trouble raising their arms, whistling, or tightly closing their eyes. Myotonic dystrophy (MMD) disorder's most common adult form prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. They have long, thin faces, drooping eyelids, and a swan-like neck. Congenital muscular dystrophy (CMD) is the term for all types of MD that show signs in babies and young children, although the MD isn't always diagnosed right away involve muscle weakness and poor muscle tone. Affect both girls and boys, it can have different symptoms In rare cases, CMD can cause learning or intellectual disabilities.

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SYMPTOMS OF MD The symptoms of muscular dystrophy are the result of a deterioration of the body's muscles. This deterioration is due to the death of the muscle cells and muscle tissues and leads to ongoing muscle wasting and muscle weakness. Difficulty walking, Disability and the need for leg and hand braces, and ultimately the use of a wheelchair. muscle weakness often begins in the legs (patient may walk with their feet wide apart to help keep balance) frequent falls, a waddling gait, limited range of motion and pain in the calves. May include muscles in the neck, arms and chest. -This can result in such complications as deformities in development of the bones of the chest and spine and scoliosis. -This can lead to serious complications, including difficulty breathing and pneumonia. Some children may also have mental impairment, cardiac arrhythmias or cardiomyopathy.

Often, there is a loss of muscle mass, which may be hard to see because some types of muscular dystrophy cause a buildup of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy. TREATMENT OPTION OF MD Physical therapy can help a child maintain muscle tone and reduce the severity of joint contractures with exercises that keep the muscles strong and the joints flexible. A physical therapist also uses bracing to help prevent joint contractures, a stiffening of the muscles near the joints that can make it harder to move and can lock the joints in painful positions. provide extra support in just the right places, bracing can extend the time that a child with MD can walk independently. If a person has Duchenne muscular dystrophy, a doctor may prescribe the steroid prednisone to help slow the rate of muscle deterioration. Patient may be able to walk longer and live a more active life. Prednisone does have side effects, though. It can cause weight gain, which can put even greater strain on already weak muscles. It also can cause a loss of bone density and, possibly, lead to fractures. Some persons with severe cases undergo spinal fusion, a surgery that can reduce pain, lessen the severity of the curvature so that a child can sit upright and comfortably in a chair, and ensure that the spine curvature doesn't have an effect on breathing.

CAUSE OF MD There are many types of muscular dystrophy that are caused by mutations in several different genes. For example, Duchenne muscular dystrophy and Becker muscular dystrophy are caused by mutations in the dystrophin gene, whereas limb-girdle muscular dystrophies are caused by mutations in other genes. DIAGNOSE OF MD If a pediatrician suspects that a child may have MD, they will begin by testing the creatine kinase (CK) level in the blood. This muscle enzyme is very high in children with MD After finding a high CK level, the pediatrician will do DNA testing to look for mutations in the gene that makes dystrophin. If this genetic testing is -ve, then a muscle biopsy may be done to confirm the diagnosis of muscular dystrophy.