Ward Class

An Online Resource Site For Student Nurses

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Ward Class is an online resource for student nurses. Created with the aim of helping student nurses cope with the demands of nursing school and clinicals, it offers free downloads, notes, sample NCPs, sample drug studies, study aids, news and updates, and practical tips to its users.

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The December 2012 PRC Nursing Board Exam Result is already available here at Ward Class and at Pinoy R.N.




Neurologic Disorders: Tay-Sachs Disease

Hypotonia in Tay-Sachs Disease
  • also called Hexosaminidase A deficiency, Sphingolipidosis
  • an autosomal recessive inherited disease caused by the absence of hexosaminidase A (enzyme necesary for lipid metabolism) in all body tissues
  • lipid deposits accumulate or nerve cells causing cognitive and visual impairment
  • found primarily in children of Eastern European Jewish ancestry
  • very fatal; death usually occurs before age 4

Assessment Findings
  • progressive lethargy in a previously healthy 2 to 6 month old infant
  • extreme Moro reflex and mild hypotonia
  • at 6 months, infants begin to lose head control and are unable to sit up or or roll over without support
  • loss of visual acuity-->cherry red macula (due to lipid deposits) on ophthalmoscopic examination
  • by age 1, symptoms of spasticity develop and infants are not able to perform simple motor tasks
  • by age 2, generalized convulsions and blindness occur
  • by age 3 to 5, malnutrition(due to inability to swallow) and pneumonia develops-->leads to death
  • diagnostic tests: ophathalmoscopic exam for cherry-red macula, enzyme measurements in serum, amniotic fluid, or white cells
Medical Management
  • there is no cure for Tay-Sachs Disease, therefore, the goal of treatment is to make patients as comfortable as possible
  • treatment options include:
    • chest physiotherapy-->patients tend to accumulate mucus easily
    • feeding tubes (PEG or NG)-->prevents aspiration and ensures optimal nutrition
    • seizure medications
    • physical therapy-->delays joint stiffness and contractures
Nursing Management
  1. provide support for parents at time of diagnosis
  2. assist parents in planning for long-term care for the child
  3. provide genetic counseling and psychologic follow-up as needed
Prognosis

There is no cure for Tay-Sachs Disease. Death usually occurs by age 4.

Prevention

Tay-Sachs Disease is not preventable.


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