Treatment Strategies For Krabbe Disease

Krabbe disease is a genetic disorder that destroys the body's myelin, which is the protective coating that shields the nervous system's cells, including cells in the spinal cord and brain. Most children with Krabbe disease begin showing symptoms before they're six months old, and the child usually dies by two years old. When symptoms develop in adults and older children, there's a much more varied progression of symptoms. Krabbe disease doesn't have a cure, so treatments focus on supportive care. There have been some cases where stem cell transplants were successful in babies who hadn't yet shown symptoms. Krabbe disease occurs in about one out of every 100,000 individuals in the United States.

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Physical Therapy and Strength Training

Physical therapy and strength training can help minimize the deterioration of muscles. Nothing can completely stop the muscular degeneration, but strength training and physical therapy can help improve an infant's quality of life. When the patient is an adult or older child with a less severe presentation of Krabbe disease, physical therapy is similarly helpful in slowing the progression of muscle deterioration. Muscle weakness tends to be the primary condition for patients diagnosed during adulthood or adolescence. When the myelin protecting the nerve cells is destroyed, nerve cells lose the ability to receive and send messages, which makes it difficult for patients to move their muscles, and may make the muscles feel weaker than they are. Lack of movement in the muscles will lead to muscle atrophy.

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Anticonvulsant Medication

Some patients develop seizures, though these usually occur after other primary symptoms. In certain cases, seizures don't appear until months or even years after the onset of symptoms. One study showed out of fifty cases of Krabbe disease, only two involved seizures as the primary symptom during the disease's onset, and seizures developed later with the other cases. The most common seizure activity associated with Krabbe disease is a myoclonic seizure. These are brief jerks of a group of muscles or a single muscle. A doctor may prescribe anticonvulsant medication to help manage the seizure symptoms. The seizures are a result of neurological problems due to the brain losing myelin. It's possible they're related to an inability to regulate electricity in the brain.

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