Late-infantile/juvenile Krabbe disease is a rare, inherited, progressive neurological disorder caused by a deficiency of the enzyme galactocerebrosidase. It is characterized by the destruction of the myelin sheath, which is the protective covering of nerve cells in the brain and spinal cord. Symptoms typically begin in infancy or early childhood and include developmental delays, muscle weakness, vision and hearing loss, and seizures. As the disease progresses, affected individuals may experience difficulty with movement, speech, and swallowing. There is no cure for Krabbe disease, but early diagnosis and treatment may help to slow the progression of the disorder.

The symptoms of Late-infantile/juvenile Krabbe disease can vary depending on the age of onset, but generally include:

-Delayed development
-Muscle weakness
-Loss of previously acquired skills
-Loss of vision
-Loss of hearing
-Seizures
-Difficulty swallowing
-Difficulty speaking
-Difficulty walking
-Spasticity
-Abnormal reflexes
-Abnormal eye movements
-Abnormal posture
-Abnormal gait
-Abnormal breathing patterns
-Abnormal heart rate
-Abnormal blood pressure
-Abnormal body temperature
-Abnormal sweating
-Abnormal skin color
-Abnormal muscle tone
-Abnormal muscle coordination
-Abnormal muscle strength
-Abnormal muscle reflexes
-Abnormal muscle movements

Krabbe disease is caused by mutations in the GALC gene, which provides instructions for making an enzyme called galactocerebrosidase. This enzyme is responsible for breaking down certain fats (lipids) in the body. When the GALC gene is mutated, the body is unable to produce enough of the enzyme, leading to a buildup of lipids in the cells. This buildup causes damage to the cells, particularly in the brain and nervous system, leading to the signs and symptoms of Krabbe disease.

The primary treatment for Late-infantile/juvenile Krabbe disease is hematopoietic stem cell transplantation (HSCT). This is a procedure in which healthy stem cells are transplanted into the patient to replace the defective cells. Other treatments may include physical therapy, occupational therapy, speech therapy, and nutritional support. In some cases, medications may be used to help manage symptoms.

1. Genetic predisposition: Late-infantile/juvenile Krabbe disease is an inherited disorder caused by mutations in the GALC gene.

2. Ethnicity: Late-infantile/juvenile Krabbe disease is more common in people of Ashkenazi Jewish descent.

3. Family history: Having a family member with Late-infantile/juvenile Krabbe disease increases the risk of developing the disorder.

4. Age: Late-infantile/juvenile Krabbe disease is most commonly diagnosed in infants and young children.

Unfortunately, there is no cure for Late-infantile/juvenile Krabbe disease. However, there are medications that can help manage the symptoms of the disease. These medications include physical therapy, occupational therapy, speech therapy, and medications to help control seizures. Additionally, stem cell transplants may be used to slow the progression of the disease.