Galactocerebroside beta-galactosidase deficiency or Krabbe disease is a hereditary illness that causes nerve cells in the brain and across the nervous system to lose their protective coating (myelin). This disease commonly manifests itself in babies before they reach the age of six months, and the condition usually leads to death by the age of two.
The condition can manifest itself in various ways in adults and children. Moreover, galactocerebroside beta-galactosidase deficiency has no cure. Hence, the only treatment is supportive care. Stem cell transplants, on the other hand, have shown some promise in newborns treated before the beginning of symptoms, as well as in certain older children and adults.
SYMPTOMS
Galactocerebroside beta-galactosidase deficiency symptoms commonly appear between 2 to 5 months. They begin gradually and progressively worsen.
Infants
Early on in the course of the condition, common signs and symptoms include:
Signs and symptoms get increasingly severe as the disease advances. Some are:
Fixed, stiff posture
Loss of developmental capabilities
Constricted, rigid muscles
Seizures
Progressive loss of sight and hearing
Adults and Older Children
When galactocerebroside beta-galactosidase deficiency strikes later in childhood or adulthood, the signs and symptoms can vary. Some are:
Progressive vision loss
Walking difficulties
Manual dexterity loss
Muscle weakness
Impaired thinking skills
Furthermore, it progresses more quickly and is more likely to result in death the younger the patient is when it first appears.
TREATMENT
There is currently no treatment available to alter the course of galactocerebroside beta-galactosidase deficiency in newborns who have already begun to show symptoms. As a result, treatment focuses on symptom management and providing supportive care. The following are instances of interventions:
Anticonvulsant medications
Muscle spasticity
Nutritional support
Adults and older children with less severe versions of the condition may benefit from the following interventions:
Occupational therapy
Physical therapy
Your doctor will perform a general physical examination and look for signs and symptoms of a neurological condition. A set of tests are used to diagnose galactocerebroside beta-galactosidase deficiency, which may include the following:
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