Muscular dystrophy (md)

1. Muscular Dystrophy (MD)

2. Introduction of Muscular Dystrophy (MD)
Muscular dystrophy (MD) is a group of more than 30 inherited diseases. It causes weakening and
breaking down of muscle fibres. The muscles become weak and susceptible to damage. This disease
affects the voluntary or skeletal muscles, which control the movements of legs, arms, and trunk. It can
also affect the heart muscles and other involuntary muscles, such as muscles in the gut. Some forms
of muscular dystrophy are found in infancy or childhood, while some may not appear until middle
age. This progressive disease is more common in boys than girls.

3. Types of Muscular Dystrophy
There are nine major types of muscular dystrophy according to the age that the symptoms appear,
location of muscles involved, the manner in which the defective gene is passed on, and the rate that
symptoms progress. All these types affect people of all age groups. The most common types of MD that
affect children include Becker Muscular Dystrophy (BMD) and Duchenne Muscular Dystrophy (DMD).
They result from a genetic deficiency of the muscle protein, dystrophin. Other common types of
muscular dystrophy are:
•Congenital muscular dystrophy
•Myotonic muscular dystrophy
•Facioscapulohumeral muscular dystrophy
•Limb-girdle muscular dystrophy
•Distal muscular dystrophy
•Emery-Dreifuss muscular dystrophy

4. Causes of Muscular Dystrophy (MD)
Muscular dystrophy is a genetic disorder caused by a defective gene. Each type of muscular dystrophy is
caused by a genetic mutation. A genetic deficiency of muscle protein, namely dystrophin is also responsible
for the most common types of muscular dystrophy.

5. Symptoms of Muscular Dystrophy (MD)
The symptoms of muscular dystrophy vary according to the types. Each type of muscular dystrophy
is different in the body part affected, age of onset, and progression of the disease. Some of the
common symptoms are muscle weakness, apparent lack of coordination, obesity, progressive muscle
wasting, weakness and loss of function, joint contractures, frontal baldness, cataracts, drooping
eyelids, mental impairment, and gonadal atrophy.
Becker muscular dystrophy affects mainly boys. Its symptoms are less severe and may start later.
People with BMD show the symptoms such as muscle breakdown and weakness and some problems
related to breathing, heart, bones, and joints. The onset of symptoms is at the age of 11.
Duchene’s muscular dystrophy is the most severe type of muscular dystrophy that affects children.
Symptoms of Duchene’s muscular dystrophy are frequent fall, large calf muscles, weakness in lower
leg muscles, causing difficulty in jumping and running, difficulty in getting up from a sitting or a lying
position, wadding gait, and mild mental retardation. The symptoms appear between the ages 2 and
6. This type of muscular dystrophy first affects the upper arms, upper legs, and pelvis.
Myotonic dystrophy causes weakness and stiffness of muscles, weakening of voluntary muscles that
control legs and arms, weakening of muscles of face, head, and neck, and fainting, or dizziness.
Facioscapulohumeral muscular dystrophy causes progressive muscle weakness involving the muscles
of face, shoulders, abdomen, upper arms, feet, pelvic area, and lower arms.
Oculopharyngeal muscular dystrophy causes drooping of the eyelids, weakness of eye muscles, and
muscles of face and throat. It results in difficulty in swallowing.

6. A careful review of patient's family history of muscle disease can help the doctor for an accurate
diagnosis. In addition to physical examination and family history, the doctor prescribes some tests for
the diagnosis of the condition. A blood test such as determination of serum creatine kinase (CK) is
useful to diagnose muscular dystrophy because this enzyme is released by the damaged muscles. High
levels of CK indicate a muscle disease such as muscular dystrophy. Other helpful tests are
electromyography, ultra sonography, muscle biopsy, and genetic testing.
Diagnosis of Muscular Dystrophy (MD)

7. Treatments of Muscular Dystrophy (MD)
In fact, there is no cure for any type of muscular dystrophy. A treatment is given to slow the progress
of the disease. It is designed to reduce or prevent the deformities in the spine and joints. Various
treatment options include medications such as mexiletine, baclofen, carbamazepine and anti-
inflammatory corticosteroids in order to manage muscle weakness, spasms, and stiffness, and improve
muscle strength, physical therapy, assistive devices, and surgery. Physical therapy focuses on providing
regular range-of-motion exercises to delay the progression of contractures and keep the joints
flexible. Some assistive devices such as braces, walkers, canes, and wheelchairs help maintain the
mobility and independence. A tendon release surgery is advised in order to release the contractures.