22November2017

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Krabbe disease- Drug Today Medical Times

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 Krabbe disease (KD) is a rare and fatal disorder which occurs in 1 in 100,000 births. Also known as globoid cell leukodystrophy, it affects the nervous system and is caused by deficiency of an enzyme called galactosylceramidase. The disease is named after the Danish neurologist Knud Krabbe.

It may be noted that there is no treatment for KD. In some cases, bone marrow transplantation shows some results in case of early treatment course.  The enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses.

KD is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus. KD happens largely with infants but its symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development.

It is said that in many cases doctors often mistake the symptoms for those of cerebral palsy. Other symptoms include swallowing, paralysis, blindness, optic nerve enlargement, optic atrophy, deafness, spasticity and muscle weakness.

Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals.

Experts say that treatment for KD is symptomatic and supportive. They say that physical therapy may help maintain or increase muscle tone and circulation. Cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear.

The higher incidence of KD has been reported six in 1,000 in certain communities in Israel.  Scandinavian countries have comparatively high rates of the disease, reported to be one in 50,000 births.