Krabbe Disease – What, Symptoms and Treatment You Should Know Today. In addition, Krabbe disease is a genetic disorder inherited by the expression of an autosomal recessive standard gene responsible for producing a dominant trait.
Specifically, the dominant trait involved with this disease is the formation of globoid cells , which are defined as cells with multiple nuclei.
This abnormal development leads to damage or final deterioration of the myelin sheath, the protective layer of many nerves that also lends pigment to the “white matter” of the brain.
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Krabbe Disease Symptoms:
In general, the younger the age of onset of Krabbe disease , the faster the disease will progress.
People who develop Krabbe disease later in life may have less severe symptoms than babies receiving Krabbe disease.
Early-onset Krabbe Disease : Symptoms of early-onset Krabbe disease include:
Feeding problems ;
Persistent vomiting ;
Loss of head control ;
Irritability and excessive crying;
Poor movement coordination or stiffness;
Muscle spasms (especially arms and legs);
Changes in muscle tone;
Deterioration of mental and motor function;
Deafness and blindness;
Krabbe Disease Treatment:
There is no cure for Krabbe disease . However, the following treatments may be given to patients to help alleviate their symptoms:
Anticonvulsant medication to stop seizures;
Muscle relaxant drugs (to help alleviate muscle spasms );
Physical therapy to help decrease muscle deterioration ;
Occupational therapy to help older children with common tasks such as dressing and eating;
Research has found two procedures that may have an effect on the progression of Krabbe disease , rather than just treating the symptoms: bone marrow transplantation (also called hematopoietic stem cell transplantation) and umbilical cord blood transplantation.
During these procedures, a person with Krabbe disease receives cells from a healthy person.
The new cells are capable of making the GALC enzyme that the patient could not do alone. Both procedures have their own risks.