KRABBE DISEASE

Description

  • Rare genetic disorder of the nervous system
  • Destroys the protective coating (myelin) of nerve cells in the brain
  • Inherited genetic disease

Symptoms

  • Begin gradually and progressively worsen

Early-onset symptoms:

  • Feeding problems
  • Persistent vomiting
  • Loss of head control
  • Fever

Late-onset Symptoms:

  • Stiff, fixed posture
  • Progressive loss of ability to swallow and breathe
  • Decline in thinking skills
  • Loss of manual dexterity
  • Difficulty walking (ataxia)
  • Poor hand coordination skills

Causes

  • Inherited from the parents
  • Genetic mutation
  • A defect in the GALC gene
  • Not enough production of galactosylceramidase

Risk Factors

  • Occurs most frequently in people of Scandinavian descent
  • If both parents have the defective gene

Diagnostic Tests

  • Blood test to look for galactosylceramidase levels in WBC
  • Blood test to assess the level of GALC enzyme activity
  • Magnetic resonance imaging (MRI)
  • Computerized tomography (CT)
  • Nerve conduction studies
  • CSF Total protein
  • Genetic Testing
  • Newborn screening

Treatment

  • No specific treatment, symptoms are treated
  • Anticonvulsant medications to manage seizures
  • Drugs to ease muscle spasticity and irritability
  • Physical therapy to help slow deterioration of muscles
  • Occupational therapy to achieve as much independence as possible
  • Stem cell transplantation
  • Bone marrow transplant in the early stages of the disease

Prevention

  • If there is a family history , prenatal tests should be done
  • Genetic counseling for parents who are carriers
  • If both the parents are carriers, it is better to avoid having children

Lifestyle Management

  • Join organizations that offer support
  • Services to families dealing with Krabbe disease
  • Try to minimize the severity of symptoms
  • Have a positive outlook
  • Join a support group