How Do You Spell KRABBE DISEASE?

Pronunciation: [kɹˈab dɪzˈiːz] (IPA)

Krabbe disease is a rare genetic disorder that affects the nervous system. The correct spelling is [ˈkʁabə diˈziːz], with the "K" being pronounced like the "c" in "cat" and the "a" in "Krabbe" sounding like the "a" in "bat." The "bb" in "Krabbe" is pronounced like a double "b," and the final "e" is pronounced like the "e" in "be." The correct spelling and pronunciation of Krabbe disease is important for accurate communication between healthcare professionals and patients or their families.

KRABBE DISEASE Meaning and Definition

  1. Krabbe Disease, also known as globoid cell leukodystrophy, is a rare and progressive inherited disorder that affects the central nervous system. It is characterized by the destruction of the protective covering of nerve cells, called myelin, primarily in the brain and spinal cord.

    The disease is caused by mutations in the GALC gene, which is responsible for producing an enzyme called galactosylceramidase. This enzyme plays a vital role in breaking down certain fats in the body, particularly galactosylceramide. In individuals affected by Krabbe Disease, the deficiency or malfunctioning of this enzyme leads to an accumulation of toxic substances and subsequent damage to the myelin sheath.

    Symptoms of Krabbe Disease usually appear within the first few months of life and can vary in severity. They typically include irritability, feeding difficulties, muscle weakness, loss of muscle control, delayed developmental milestones, and abnormal eye movements. As the disease progresses, affected individuals may experience seizures, difficulty swallowing, loss of vision and hearing, and cognitive decline. Krabbe Disease is ultimately fatal, with most affected individuals not surviving past early childhood.

    Treatment options for Krabbe Disease are limited. Stem cell transplantation, when performed early in the course of the disease, has shown some promise in halting or slowing down disease progression. However, the effectiveness of the treatment depends on the age at which it is initiated and the severity of the disease at the time of diagnosis. Palliative care and supportive therapies are often provided to manage symptoms and improve the quality of life for individuals with Krabbe Disease.

Common Misspellings for KRABBE DISEASE

  • jrabbe disease
  • mrabbe disease
  • lrabbe disease
  • orabbe disease
  • irabbe disease
  • keabbe disease
  • kdabbe disease
  • kfabbe disease
  • ktabbe disease
  • k5abbe disease
  • k4abbe disease
  • krzbbe disease
  • krsbbe disease
  • krwbbe disease
  • krqbbe disease
  • kravbe disease
  • kranbe disease
  • krahbe disease
  • kragbe disease
  • krabve disease

Etymology of KRABBE DISEASE

The word "Krabbe Disease" is named after the Danish neurologist Knud Krabbe, who first described the condition in 1916. Krabbe disease, also known as globoid cell leukodystrophy, is a rare and degenerative genetic disorder that affects the nervous system. It is characterized by the destruction of the protective covering of nerve cells in the brain and other parts of the body.