Krabbe Disease: Krabbe disease is a rare hereditary condition of the neurological system that usually leads to death. Degeneration of the myelin sheaths that protect the brain’s nerves is widespread in people with Krabbe disease because of a lack of the enzyme galactosylceramidase. Without myelin, brain cells die off, and the nervous system stops functioning normally.
About 85 to 90 percent of Krabbe disease cases begin in infancy (onset by 6 months). However, it can also occur later in life. Krabbe disease is fatal for infants, and there is currently no treatment.
What Are The Symptoms Of Krabbe Illness?
Krabbe’s illness varies in both its symptoms and severity. In general, the earlier the age of the commencement of Krabbe illness, the faster the disease will advance. People who develop Krabbe illness later in life may have less severe symptoms than infants who get the disease.
Early Onset Krabbe Illness
Infants with the disease may experience:
- excessive irritability
- difficulty swallowing
- unexplained fevers
- partial unconsciousness.
Furthermore, they may have heightened auditory sensitivity, making them easily startled. Seizures and spastic contractions of the lower limbs are two examples of limb issues that could emerge. It is not uncommon for people to stand with their legs fully extended. It’s okay to flex your fingers, toes, and ankles.
Blindness and delayed mental and physical development may also occur, as well as peripheral neuropathy. The symptoms of peripheral neuropathy include:
- muscle weakness
- burning or tingling sensations
Late Onset Krabbe Illness
Symptoms of late-onset Krabbe illness in older children and adolescents include:
- lack of control of voluntary movements
- progressive vision loss
- progressive rigidity of muscles in the legs
What Causes Krabbe Disease?
A genetic mutation, or a change in the DNA sequence of a gene, is responsible for Krabbe disease. Changes to the protein that this gene codes for are inevitable. The gene for Krabbe disease can be identified on chromosome 14. A child has to inherit the faulty gene from both parents to develop the condition.
The defective gene prevents your body from producing enough of the enzyme galactosylceramidase, which is essential for your survival (GALC). A separate gene mutation is responsible for late-onset cases, though. The brain’s galactosylceramide and psychosine are degraded by the enzyme GALC. Psychosine levels in people with Krabbe disease are up to a hundred times greater than in healthy people.
Who Is At Risk For Krabbe Disease?
We see few cases of Krabbe illness. It affects roughly 1 in every 100,000 people in the United States and occurs most frequently in people of Scandinavian origin. Men are impacted as often as women. If both parents carry the flawed gene, their offspring have a 25% chance of receiving two copies of the gene and having the illness.
How Is Krabbe Illness Diagnosed?
The physician will perform a physical examination to check for signs of illness. A doctor may draw blood or perform a skin biopsy to send for lab testing. Laboratory analysis can determine if there is GALC enzyme activity in the specimen. The youngster may develop Krabbe disease if GALC activity levels are deficient. Additional diagnostic procedures could include the ones listed below.
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- Imaging scans (MRI). A doctor can use an MRI of the brain to look for abnormalities, showing diffuse demyelination in children with this disease.
- Nerve conduction studies. These studies measure the speed at which electrical impulses are sent through the nervous system.
- Eye examination. This examination looks for signs of damage to the optic nerve.
- Genetic testing. Genetic testing can detect the congenital defect that causes Krabbe disease.
- Amniocentesis. A diagnosis can also be made with amniocentesis before a child’s birth.
How Is Krabbe Illness Treated?
In most cases of Krabbe illness, the sole treatment options are palliative and supportive care. However, hematopoietic stem cell transplantation is an option for patients who present with a late-stage or no-symptom diagnosis (HSCT). The transplant has the potential to slow the patient’s disease progression and even lengthen their life. Stem cell treatment and bone marrow transplants have been tried in isolated cases. Additionally, clinical trials employ gene therapy as a therapeutic option.
What Is The Long-term Outlook For People With Krabbe Illness?
Krabbe disease is a fatal newborn illness with a median age of death of under 2 years. Children who develop the condition later in life will survive a bit longer but typically die between 2 and 7 years after they’re diagnosed.
How Can Krabbe Illness Be Prevented?
Krabbe disease is caused by a genetic flaw that, if passed down from both parents, results in an increased risk of the kid inheriting two copies of the defective gene and developing the disease. If carriers want to minimize the risk, they should stop having kids. The parents can find out if they carry the gene for Krabbe disease through a blood test, and this is a good idea, especially if the condition runs in the family.
If there’s a family history of Krabbe disease, prenatal diagnostics can screen the fetus for the disorder. People with a history of Krabbe disease in their family should seek genetic counseling before starting a family.