About Adult Krabbe disease
What is Adult Krabbe disease?
Adult Krabbe disease is a rare, inherited disorder that affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is responsible for breaking down certain fats in the body. Symptoms of Adult Krabbe disease include progressive loss of vision, hearing, and motor skills, as well as seizures, dementia, and difficulty swallowing. Treatment typically involves supportive care and enzyme replacement therapy.
What are the symptoms of Adult Krabbe disease?
The symptoms of Adult Krabbe disease can vary depending on the age of onset, but generally include progressive neurological decline, muscle weakness, spasticity, vision loss, hearing loss, seizures, difficulty swallowing, and difficulty speaking. Other symptoms may include difficulty walking, difficulty with coordination, and difficulty with balance.
What are the causes of Adult Krabbe disease?
Adult Krabbe disease is caused by a genetic mutation in the GALC gene, which is responsible for producing an enzyme called galactocerebrosidase. This enzyme is necessary for the breakdown of a fatty substance called galactolipid, which is found in the myelin sheath that surrounds nerve cells. Without this enzyme, the myelin sheath breaks down, leading to the symptoms of Krabbe disease.
What are the treatments for Adult Krabbe disease?
There is no cure for Adult Krabbe disease, but treatments are available to help manage symptoms and improve quality of life. These treatments may include physical therapy, occupational therapy, speech therapy, nutritional support, medications to reduce spasticity, and supportive care. In some cases, stem cell transplantation may be an option.
What are the risk factors for Adult Krabbe disease?
1. Inherited genetic mutation: Krabbe disease is caused by a mutation in the GALC gene, which is inherited in an autosomal recessive pattern.
2. Ethnicity: Krabbe disease is more common in people of Ashkenazi Jewish descent.
3. Age: Krabbe disease is most commonly diagnosed in infancy or early childhood, but it can also occur in adults.
Is there a cure/medications for Adult Krabbe disease?
Unfortunately, there is no cure for Adult Krabbe disease. However, there are medications that can help manage symptoms and slow the progression of the disease. These medications include enzyme replacement therapy, physical therapy, occupational therapy, speech therapy, and medications to help manage pain and other symptoms.