Diseases Diseases

Signs, Symptoms And Treatment Of Oculopharyngeal Muscular Dystrophy

Published at 03/18/2012 12:30:27

Symptoms and Treatment of Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy is a genetic condition that is defined by muscle weakness that commences in adulthood. It is capable of affecting different muscle groups. Most people are born with oculopharyngeal muscular dystrophy but may not be aware of its existence in their bodies until the symptoms start appearing. Oculopharyngeal muscular dystrophy may also affect some other parts of the body like the lungs, brain and heart. There are many different types of muscular dystrophy and each type affects a different group of muscles.

Symptoms of Oculopharyngeal Muscular Dystrophy

The signs and symptoms of oculopharyngeal muscular dystrophy tend to appear in the fifth decade of life. They are;

  • Progressive restriction of eye movement that can lead to diplopia.
  • Covering of the pupil by the eyelid thus impaired vision.
  • Swallowing difficulties.
  • Limb weakness that begins with the shoulders.
  • Facial weakness.
  • Learning disabilities.
  • Difficulty getting up from a seat.
  • Frequent falls.
  • Weakness and wasting of the tongue.

Diagnosis of Oculopharyngeal Muscular Dystrophy

The diagnosis of oculopharyngeal muscular dystrophy involves a number of physical exams and a thorough scrutiny of the patient's medical and family history. The following lab tests are conducted to help in the diagnosis of oculopharyngeal muscular dystrophy.

  • Blood test: it is done to determine the level of creatine kinase enzyme in the blood. High levels of creatine kinase enzyme in the blood can be as a result of muscle damage.
  • Biopsy: a small muscle tissue is removed for a microscopic exam to be conducted. Changes in the muscle cell structure and the presence of fibrous tissue and other unusual structures can be good signs of oculopharyngeal muscular dystrophy. The muscle cells can also be stained to detect the presence of particular proteins.
  • Electromyography: it is conducted to test the functioning of the muscles and the nerves that control the particular muscles. Electrodes are placed on the muscle being tested and needles that are attached to the electrodes are entered in the skin. The electrical activity of the muscle is measured using the machine attached to the electrodes. Decreased response suggests oculopharyngeal muscular dystrophy.
  • Magnetic resonance imaging (MRI): the pictures of the muscles are taken and the doctor is able to tell the changes in the muscle structure.
  • Genetic test: used to test the presence of a mutated gene in the patient and also define if the disorder is hereditary.

Treatment of Oculopharyngeal Muscular Dystrophy

As of now, there is no known treatment of oculopharyngeal muscular dystrophy and it cannot be reversed. The treatment given to oculopharyngeal muscular dystrophy patients aims at improving the symptoms and reducing their damage. The following are the main treatments given to oculopharyngeal muscular dystrophy patients.

  • Medicines: pain relievers and steroids are given to reduce the pain, swelling and redness. Prednisone is administered to delay the progression of oculopharyngeal muscular dystrophy.
  • Surgery: this is done to correct the complications like contractures that are brought about by oculopharyngeal muscular dystrophy. Tendons of the contractured muscle are cut and the limb is placed in its normal place and other tendons grow. During surgery, some types of anesthesia like halothane anesthesia should be avoided as the patients may react to them.
  • Therapy: this involves both the physical and occupational therapy. Physical therapy aims at exercising the bones and muscles so that they can be stronger. It involves stretching to help maintain the motion and to delay contractures. Regular physical exercise also promotes good health. Occupational therapy uses tools and techniques that compensate loss of strength and agility.
  • Use of assistive devices: these are the devices that assist in walking, protecting and supporting the body movement to prevent damage. They are things like; wheelchairs, clutches and braces.