What is Muscular Dystrophy?

A group of about 60 different genetic neuro-muscular disorders, Muscular Dystrophy (MD) is a hereditary muscle disease which leads to a progressive muscle weakness. The characteristic features of muscular dystrophy are: skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.

Diseases like Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal and Emery-Dreifuss are classified as the muscular dystrophy.

Muscular dystrophy is usually a multi-system disorder with the manifestations in the body systems like heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs. It is estimated that around 100 boys suffering from this disorder are diagnosed each year in UK alone.

Causes of Muscular Dystrophy

The most common cause of muscle dystrophy is a faulty gene mutation in the genes of muscle structure and function. When there is a single genetic fault in the production of muscle fibres’ (dystrophin) protein, this is called as Duchenne MD. These faulty genes can be passed on for generations ahead, and may occur at any time of a person’s life all of a sudden.

. In other types of diseases, the muscles are made weak, but in a muscular dystrophy, it’s not the nerves which are weakened, rather the nerve cells themselves get changed. This leads to an inability in the cells to process the food and oxygen, thus leading to a deficiency of the required energy in the cells, resulting in the cells to degenerate and ultimately destroyed.

Duchenne MD is an X-linked recessive pattern, thus in females when the mutation is present in both copies of the gene, the disorder happens. However in males, since they have only one X- chromosome, only one copy of the altered gene in each cell can cause the muscular dystrophy in males. Thus, it is seen, that males are usually more prone to the muscular dystrophy than the females.

Also, this gene cannot be passed on from the fathers to sons, rather mother’s one set of altered gene results in the son having the muscular dystrophy. Females carrying only one set of the altered gene may show some symptoms related to the muscular dystrophy, like weakness of muscles and cramping, but these are very mild in nature. Only one third of the cases are a result of the new gene mutations. Rest other cases are all in the inheritance lineage.

Muscular Dystrophy Symptoms

The severity of the disease depends on the type of the muscular dystrophy one acquires. The most common symptoms of muscular dystrophy are – progressive muscular wasting (weakness), poor balance, frequent falls, walking difficulty, waddling gait, calf pain, limited range of movement, muscle contractures, respiratory difficulty, drooping eyelids (ptosis), gonadal atrophy, scoliosis (curvature of the spine), inability to walk; while it may also affect the heart, causing cardiomyopathy or arrhythmias.

In cases of facioscapulohumeral muscular dystrophy, the first muscles to be affected are of the face, shoulders and upper arms. In Duchenne MD, it is the muscles of pelvis and thighs which are first affected.

Usually seen in boys, this condition results in the boys experiencing difficulty in walking in early years, say between ages one and three, and soon the disease renders them unable to walk or run at all. At times, this also results in the learning or behavioural disorders. When this disease advances into the late teens and twenties, the condition becomes life threatening due to the respiratory problems it causes.

Treatment for Muscular Dystrophy

Muscular dystrophies are incurable. However, proper treatment can help limit the effects of the MDs. Extensive treatments to control the symptoms can be carried, which include muscle exercises (as the inactivity of muscles can worsen the matters), physiotherapy (to maintain the muscle strength and flexibility), speech therapy, occupational therapy and physical aides like braces or wheelchairs to provide support and maintain mobility.

Since the disease may result in a lot of emotional and psychological distress to the patient, it is very important to provide the person with a lot of emotional support. Many help groups and organisations are there to help the people. Meanwhile, genetic counselling, prenatal diagnosis by chorionic villus sampling and antenatal screening of the families, may be one way to prevent the disease from being passed onto the children.