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Krabbe Disease


Krabbe is the disease of central as well as peripheral nervous system's disorder. It is one type of hereditary disease. Krabbe disease is mainly described by break down of mycelin coating which is protecting of nerves and damage of brain cells. Krabbe disease is one type of a collection of inherited disorders. It is also known as leukodystrophies. Some people are also called it Galactosylceramidase Deficiency Disease. It is one type of recessive disorder of autosomal genes. Krabbe disease is rare disease. Krabbe disease is mostly related to the chromosome 14.

Causes of Krabbe Disease

  • Mostly, neurological causes are responsible for Krabbe Disease.
  • Mutation in GALC(Galactosylceramidase) gene is the main cause of Krabbe disease.
  • One more cause of Krabbe disease is deficiency of enzymes.
  • Imperfect growth of mycelin may be reason of Krabbe disease.
  • Krabbe disease is also caused by damage of brain cells.

What are the symptoms of Krabbe Disease?

There are lot of sign or symptoms of Krabbe Disease;

  • Bad temper
  • Fever
  • Stiffness
  • Eating difficulties
  • Vomiting
  • Difficulty in mental growth
  • Muscle weakness
  • Loss of vision

How is diagnosed Krabbe disease?

  • Lumber puncture is one of the method for diagnosis of Krabbe Disease.
  • Testing of genes is also detect Krabbe Disease at the time of birth.
  • Some special blood tests may be detect the Krabbe Disease.
  • Krabbe Disease is also tested by Electromyography technique.
  • For diagnosis of Krabbe Disease, Prenatal testing is also available.

Treatment for Krabbe Disease

Treatment of Krabbe disease is mainly depend upon the symptoms of this disease;

  • Bone marrow transplantation is one of the treatments for Krabbe Disease.
  • Physical therapy may be essential for treatment of Krabbe disease which is keep up or enhance muscle quality and movement.
  • Sometimes, cord blood transplant is also taking place in case of treatment of Krabbe disease.
  • In treatment of Krabbe disease, gene therapy is used occasionally.
  • CT scan of brain is also taking place in treatment of Krabbe Disease.