Muscular dystrophy: Causes, symptoms, diagnosis and treatment (1)

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Muscular Dystrophy (MD)
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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.

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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

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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.

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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

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Symptoms
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• 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.

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Symptoms
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• 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.

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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.

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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.

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