Muscular Dystrophy (MD)

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
ofmuscular dystrophyare found in infancy or childhood, while some may not
appear until middle age. This progressive disease is more common in boys than
girls.

Types of Muscular Dystrophy

There are nine majortypes of muscular dystrophyaccording 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

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.

Thesymptoms of muscular dystrophyvary according to the types. Each type

of muscular dystrophy
is different inof
the
body part affected, age of onset, and
Symptoms
Muscular
progression of the disease.
Some of
the common symptoms are muscle
Dystrophy
(MD)
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.
Duchenes muscular dystrophy is the most severe type of muscular dystrophy
that affects children. Symptoms ofDuchenes muscular dystrophyare
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 causesweakness 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.

Diagnosis of Muscular Dystrophy (MD)

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 diagnosemuscular
dystrophybecause 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.

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 andkeep 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.