METACHROMATIC LEUKODYSTROPHY

Disease

METACHROMATIC LEUKODYSTROPHY

Description

  • It is a genetic disorder that affects nerves, muscles and other organs
  • A deficient enzyme arylsulfatase A (ARSA) causes ML

Types

  • Late infantile MLD
  • Juvenile MLD
  • Adult MLD

Symptoms

  • Inability to perform normal tasks
  • Loss of muscle control
  • Nerve function problems
  • Personality changes
  • Poor school performance
  • Speech difficulties

Cause

  • Deficiency of arylsulfatase A
  • Genetic mutation

Diagnostic Tests

  • Blood or skin culture to look for low arylsulfatase A activity
  • Blood test to look for low arylsulfatase A enzyme levels
  • DNA testing for the ARSA gene
  • Nerve signaling studies
  • Urine analysis
  • Urine chemistry
  • CT scan
  • MRI
  • Nerve biopsy

Treatment

  • Medication
  • Nutritional assistance
  • Occupational therapy
  • Physical therapy

Lifestyle management

  • Genetic test
  • Genetic counseling