Tay-Sachs Disease

  1. General information
    1. Degenerative brain disease, caused by absence of hexosaminidase A from all body tissues
    2. Autosomal recessive inheritance
    3. Occurs predominantly in children of Eastern European Jewish ancestry
    4. A fatal disease; death usually occurs before age 4
  2. Assessment findings
    1. Progressive lethargy in a previously healthy 2- to 6-month-old infant
    2. Loss of developmental accomplishments
    3. Loss of visual acuity
    4. Hyperreflexia, decerebrate posturing, dysphagia, malnutrition, seizures
    5. Diagnosis confirmed by classic cherry-red spot on the macula and by enzyme measurements in serum, amniotic fluid, or white cells
  3. Nursing interventions
    1. Support parents at time of diagnosis; help them cope with feelings of anger and guilt.
    2. Assist parents in planning long-term care for the child.
    3. Provide genetic counseling and psychologic follow-up as needed.