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What is Krabbe Disease?

Krabb? disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabb? disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe degeneration of mental and motor skills.

Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.

Krabbe Disease patients show symptoms within the first year of life, there have been cases diagnosed at all ages, through late adulthood. In general, the earlier the diagnosis, the more rapid the progression of the disease. Those who first show symptoms at ages 2-14 will regress and become severely incapacitated, and generally die 2-7 years following diagnosis. Some patients who have been diagnosed in the adolescent and adult years have symptoms that remain confined to weakness without any intellectual deterioration, while others may become bedridden and deteriorate both mentally and physically.

In all individuals with Krabbe disease, galactocerebrosidase (GALC) enzyme activity is deficient in leukocytes isolated from whole heparinized blood or in cultured skin fibroblasts. Carrier testing by measurement of GALC enzyme activity in leukocytes or in cultured skin fibroblasts is unreliable because of the wide range of enzymatic activities observed in carriers and non-carriers. Molecular genetic testing of GALC, the only gene known to be associated with Krabbe disease, may be used for carrier detection in at-risk relatives if the disease-causing alleles have been identified in an affected family member.

In most cases, Krabbe disease develops in babies before six months of age, although it can occur in older children and in adults. Krabbe disease may be best known in the United States for the media attention it received when former professional football quarterback Jim Kelly raised awareness and research funds for the disorder, which had been diagnosed in his son, Hunter.

Krabbe disease is one of a group of genetic conditions called leukodystrophies. Doctors sometimes refer to Krabbe disease as globoid cell leukodystrophy — the globoid cells are storage cells that play a role in the disorder. The disease is named after the Danish neurologist who first reported infants with the condition in 1916.

If the symptoms suggest Krabbe disease, a blood test can be done to see if the child or adult has GALC deficiency, which would confirm the diagnosis. A lumbar puncture can be done to sample the cerebrospinal fluid, which in Krabbe disease has abnormally high levels of protein. The test for GALC deficiency can also be done on an unborn child if the parents carry the defective gene (on chromosome 14).

Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, and seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In the first stages of the disease, doctors often mistake the symptoms for those of cerebral palsy. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.

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What is Krabbe Disease? / Author: peterhutch

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