MUSCULAR DYSTROPHY

MUSCULAR DYSTROPHY:

Introduction:

  • It refers to a group of disorders that involve a progressive loss of strength. The main form of muscular dystrophy may affect up to one in every 5000 males.
  • The most common form is Duchenne muscular dystrophy. It typically affects young boys but other variations can strike in adulthood.
  • Muscular Dystrophy is a collection of muscle wasting condition.
  • Muscular Dystrophy is a group of over 30 conditions that lead to muscle weakness and degeneration. As the condition progresses it become harder to move muscles. In some cases, it can affect breathing and heart function, leading to life threatening complications.
  • MD can occur at any age, but most diagnosis occurs in childhood. Young boys are more susceptible for this disease than girls.
  • Depending on the type of severity, the affects can be mild, progressing slowly over a normal lifespan, there may be moderate disability or it can be fatal.
  • There is currently no way to prevent or reverse muscular dystrophy, but different kinds of therapy and drug treatment can improve a person’s quality of life and delay the progression of symptoms.

Definition:

Muscular Dystrophy is a group of inherited disease that damage and weaken muscle over the time. The damage and weakness is due to the lack of protein dystrophin; which is the measures of normal muscle function. The absence of this protein can cause problems with walking, swallowing and muscle coordination.

             

Types of Muscular Dystrophy:

There are following types of muscular dystrophy;

  1. Duchenne Muscular Dystrophy (DMD):
  2. The symptoms of DMD starts before child’s third birthday, they are wheelchair bound by two years.
  3. Their patients can die due to the respiratory failure.
  4. Symptoms are trouble in walking, loss of reflexes, difficulty in standing up, poor posture, bone thinning, scoliosis, mild intellectual impairment, breathing difficulties, swallowing problems, lung and heart weakness.

           

  1. Baecker Muscular Dystrophy:
  2. Patient feel later onset of this type.
  3. There is slower progression of BMD found in persons.
  4. Death from BMD may occur in mid 40s.
  5. It commonly affects boys.
  6. Muscle weakness mostly in arms and legs.
  7. Symptoms include walking on toes, frequent falls, muscle cramps, trouble in getting up from the floor.
  8. Myotonic Muscular Dystrophy:
  9. It is also known as Steiner’s disease.
  10. It is the most common adult onset form.
  11. This form is characterized by inability to relax muscles once it has contracted.
  12. Symptoms of myotonic MD include cataracts, sleepiness and arrhythmia.
  13. It can affect facial muscles, CNS, adrenal glands, heart, thyroid gland, eyes and GI tract.
  14. Congenital Muscular Dystrophy:
  15. This is the most common form of muscular dystrophy before the age of 2 years or from birth.
  16. It can affect both girls and boys.
  17. Some form progress slowly whereas others can move swiftly and cause significant impairment.
  18. Symptoms include muscle weakness, poor motor control, inability to stand or sit without support, scoliosis, foot deformities, trouble swallowing, respiratory and speech problems, vision problems and intellectual impairement.
  19. Facialcapulohumeral (FSHD):
  20. It is also known as Landouzy-Dejerine disease.
  21. This is the most commonly seen during teenage years. The muscular weakness often begins in the face, upper arms and shoulders.
  22. People with FSHD may sleep with their eyes slightly open.
  23. It cause difficulty in chewing or swallowing, stunted shoulders, a crooked appearance of the mouth, a wing like appearance of the shoulder blade.

               

  1. Limb Girdle Muscular Dystrophy:
  2. This variant begins in childhood or teenage years.
  3. It first affect the shoulders and hip muscles with these individuals having trouble raising front part of the foot, making tripping a common problem.
  4. It affects both male and female.
  5. Oculopharyngeal MD (OPMD):
  6. It occurs between the onset of 40 and 70 years of age.
  7. The most affected parts are eyelids, face and throat followed by shoulder and pelvis.
  8. Symptoms of OPMD include drooping eyelids, trouble swallowing, voice changes, vision problems, heart problems and difficulty in walking.
  9. Distal Muscular Dystrophy:
  10. It is also known as distal myopathy.
  11. It affects the muscles in forearms, hands, calves, feet.
  12. It also affects respiratory system and heart muscles.
  13. The symptoms tend to progress slowly and include a loss of fine motor skills and difficulty in walking.
  14. Most people are diagnosed with distal MD between the age of 40 and 60.

              

Causes of Muscular Dystrophy:

There are following causes of the muscular dystrophy:

  1. It is caused by the mutation on the X- chromosomes. Each version of the muscular dystrophy is due to a different set of mutation but all prevent the body from producing dystrophin. Dystrophin is a protein essential for building and repairing muscles.
  2. DMD is caused by specific mutation in gene that encodes the cytoskeletal protein dystrophin. It makes up just 0.002% of the total proteins in striated muscles, but it is an essential molecule for the general functioning of muscles.
  3. Dystrophin is a complex group of protein that allow muscles to work correctly. The protein helps to anchor various components within muscle cells together and link them to all the sarcolemma
  4. If dystrophin is absent or deformed, this process does not work correctly and disruption occurs in the outer membrane. This weakens the muscles and can also actively damage the muscle cell.
  5. In DMD dystrophin is almost absent, less the dystrophin; worse the symptoms and etiology of the disease.

Diagnosis:

  1. Enzyme Assay: Damaged muscle produces creatine kinase (CK).  Elevated levels of CK in the absence of other type of muscle damage could suggest MD.
  2. Blood Testing: Testing of blood for the genetic markers of the muscular dystrophy and blood test for the enzyme released by damaged muscles.
  3. Genetic Testing: As genetic mutations are known to occur in MD, these changes can be screened for the occurrence of MD.
  4. Heart Monitoring: Echocardiograms or electrocardiography can detect changes in the musculature of the heart.
  5. Lung Monitoring: It is the process of checking lung functioning in DMD.
  6. Electromyography: It is the method in which electrode needle is pierced into the muscle to measure electrical activity.
  7. Biopsy: In this procedure a portion of the muscle is removed and examines it under the microscope.

Treatment:

There is currently no cure for muscular dystrophy, but treatment can help manage symptoms and slow the progression of the disease. Treatments include:

  1. Corticosteroids drugs, which help strengthen the muscles and slow muscle deterioration.
  2. Assisted ventilation if respiratory muscles are affected.
  3. Medications for heart problems
  4. Surgery to help the shortening of muscles.
  5. Surgery to repair cataracts.
  6. Surgery to treat scoliosis.
  7. Surgery to treat cardiac problems.

 

                               

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