TAY-SACHS DISEASE

Description

  • Disease of the central nervous system
  • Neurodegenerative disorder that most commonly affects infants
  • It is a fatal genetic disorder

Symptoms

  • Deafness
  • Progressive blindness
  • Decreased muscle strength
  • Increased startle response
  • Paralysis or loss of muscle function
  • Seizure
  • Muscular stiffness (spasticity)
  • Delayed mental and social development
  • Slow growth
  • Red spot on the macula

Causes

  • Caused by a defective gene on chromosome 15 (HEX-A)
  • Passed down through families
  • If only one parent passes down the defective gene, the child becomes a carrier

Risk Factors

  • Most common among Ashkenazi Jews
  • If one or both parents are carriers

Diagnostic Tests

  • Prenatal tests, such as Chorionic Villus Sampling (CVS)
  • Genetic testing
  • Antenatal screening
  • Blood tests after birth

Treatment

  • No cure is available
  • treatment consists of keeping the child comfortable
  • Palliative care
  • Medications
  • Physiotherapy

Medications

  • Pain relievers
  • Anti-epileptics to control seizures

Prevention

  • No way to prevent since it is genetic
  • Screening can be done to check for carriers
  • Talking to a genetic counselor