Pompe Disease Life Expectancy, Stymptoms and Treatment

Pompe Disease Life Expectancy, Stymptoms and Treatment

Pompe Disease have identified by Swiss Pathologist Doctor Johannes Cassianus Pompe in year 1932. In this disease glycogen will accumulate inside the lysosome due to acid-alpha glucosidase enzyme deficiency. This disease is an autosomal recessive inherited disorder that is seen in 1 of 40,000 people. If there is no gene transfer from both parents due to autosomal recessive inheritance, the disease will not occur in children.

Pompe Disease symptoms:

Glycogen will stored in muscle cells and it is a kind of sugar. In this disease glycogen cannot broken down. For this reason, fatigue and weakness will start. With it, it causes muscle weakness that worsens over time and often leads to respiratory problems. If the too much glycogen accumulates in the muscle cells, the muscles will damaged and will not function properly. The first symptom is usually the weakness of the legs and hips, and this usually leads to wobbling. These patients will have muscle pains and will fall down frequently also. In some patients, cardiomegaly and hepatomegaly have reported. Respiratory tract infection, sleep apnea, and contractures in the muscles are common.

Pompe Disease treatment:

  • Enzyme-replacement therapy is helpful for slowing progression. Special form of acid-alpha-glucosidase is used for enzyme replacement therapy. This particular form have called RhGAA. This medication have formed in mammalian cells that have genetically engineered. This treatment can slow the progression of muscle weakness and improve muscle function.
  • The patients are still followed up with supportive care. Respiratory support should be provided to patients with developing respiratory distress. Positive pressure breathing systems can provided to this patients for home environment using.
  • A wheelchair should be provided to patients that cannot walk.
  • Psychiatric support should provided also for this patients and his relatives.
  • In these patients nutritional problems due to muscle weakness may develop. Nutrition can provided by placing a nasogastric tube when necessary.
  • With it, it is important to fight with infections.
  • Although there is no definitive treatment for Pompe Disease yet, but there is hope about finding new effective treatments.
  • The research on gene therapy trials are continuing but they are still at beginning levels also.
  • The bone marrow transplantation have tried before but it was not successful also.

Pompe Disease Lifespan:

Infantile type disease will occur in the first 6 months of life and progresses rapidly and results in death. Patients usually die before the age of 2 years.

Adult type Pompe Disease average lifespan is 55 years of age. About %50 of this patients may need wheelchair or respiratory support. If these patients going not die due to respiratory insufficiency, they may live like other healthy people.

To read about Gaucher Disease click this link

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