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Muscular dystrophy: Causes, symptoms, diagnosis and treatment

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Muscular dystrophy (MD) is a group of more than 30 inherited diseases. It causes weakening and breaking down of muscle fibres. – PowerPoint PPT presentation

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Title: Muscular dystrophy: Causes, symptoms, diagnosis and treatment


1
Muscular Dystrophy (MD)
2
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
What are the causes of muscular dystrophy?
  • 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
  • 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

6
Symptoms
Continue
  • 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 of Duchenes 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.

7
Symptoms
Continue
  • 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.

8
Diagnosis of muscular dystrophy
  • 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, ultrasonography, muscle biopsy,
    and genetic testing.

9
Treatments
  • 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.

10
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