DR K TAMILSELVAN

Muscular dystrophy (MD)

Muscular dystrophy (MD) is a group of genetic diseases that cause progressive muscle weakness and degeneration. Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

Kinds of muscular dystrophy

   Duchenne muscular dystrophy,

   Myotonic muscular dystrophy,

   Becker muscular dystrophy,

   Congenital muscular dystrophy,

   Facioscapulohumeral muscular dystrophy,

   Limb-girdle muscular dystrophy.

              Duchenne muscular dystrophy (MD)

This is the most common form. Although girls can be carriers and mildly affected, it’s much more common in boys.

Duchenne Muscular dystrophy

Signs and symptoms of Duchenne Muscular Dystrophy

       Typically appear in early childhood

          Frequent falls
          Difficulty rising from a lying or sitting position
          Trouble running and jumping
          Waddling gait
          Walking on the toes
          Large calf muscles
          Muscle pain and stiffness
          Learning disabilities
          Delayed growth

               Myotonic muscular dystrophy (MD)

           This is characterized by an inability to relax muscles following contractions. Facial and neck muscles are usually the first to be affected. People with this form typically have long, thin faces; drooping eyelids; and swanlike necks.

               Becker muscular dystrophy (MD)

           Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. Symptoms generally begin in the teens but might not occur until the mid-20s or later.

               Congenital muscular dystrophy (MD)

           This type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment

               Facioscapulohumeral muscular dystrophy (MD)

           Muscle weakness typically begins in the face, hip and shoulders. The shoulder blades might stick out like wings when arms are raised. Onset usually occurs in the teenage years but can begin in childhood or as late as age 50.

                Limb-girdle muscular dystrophy (MD)

            Hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy might have difficulty lifting the front part of the foot and so might trip frequently. Onset usually begins in childhood or the teenage years.

Symptoms of Muscular dystrophy (MD)

          Muscle pain and stiffness,

          Frequent falls,

          Difficulty rising,

          Trouble running and jumping,

          Waddling gait

          Walking on the toes

Causes of Muscular dystrophy (MD)

          MD is caused by gene mutations that affect muscle proteins. These mutations are usually inherited, but can also occur spontaneously.

Diagnosis of Muscular dystrophy (MD)

      A muscle biopsy or DNA blood test can confirm a diagnosis.

 Other tests may include

      Electrocardiography (ECG),

      Nerve Conduction Study,

      Electromyography (EMG), and

      Urine and Blood Laboratory Investigations.

Progression of Muscular dystrophy (MD)

MD is a progressive condition that worsens over time.

   It can affect

        Skeletal and cardiac muscles, and can lead to reduced mobility,

        Respiratory complications,

        Cardiac complications.

Complications of Muscular dystrophy (MD)

        Trouble walking. Some people with muscular dystrophy eventually need to use a wheelchair.
Trouble using arms. Daily activities can become more difficult if the muscles of the arms and shoulders are affected.

        Shortening of muscles or tendons around joints (contractures). Contractures can further limit mobility.

         Breathing problems. Progressive weakness can affect the muscles associated with breathing. People with muscular dystrophy might eventually need to use a breathing assistance device (ventilator), initially at night but possibly also during the day.

         Curved spine (scoliosis). Weakened muscles might be unable to hold the spine straight.

         Heart problems. Muscular dystrophy can reduce the efficiency of the heart muscle.

         Swallowing problems. If the muscles involved with swallowing are affected, nutritional problems and aspiration pneumonia can develop. Feeding tubes might be an option.

Treatment of Muscular dystrophy (MD)

             There is no cure for Muscular dystrophy (MD) but treatment can help manage symptoms.

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