Skip to Main Content

++

ICD-9-CM Code

++

  • 330.1 Cerebral lipidoses

++

ICD-10-CM Code

++

  • E75.02 Tay-Sachs disease

++

Preferred Practice Pattern1

++
++

Key Features

++

Description

++

  • Progressive autosomal recessive genetic disorder

  • Infant lacks protein, beta-hexosaminidase A that prevents the accumulation of the lipid, ganglioside GM-2, thus causing damage to brain cells.

++

Essentials of Diagnosis

++

  • Genetic defect of chromosome 15

++

General Considerations

++

  • Categories:

    • Infantile: most common

      • Symptoms appear between 3 to 6 months of age.

    • Juvenile: Symptoms begin between 2 to 5 years old.

    • Adult: Symptoms begin during adolescence or as young adult.

++

Demographics

++

  • Carrier rates

    • Ashkenazi Jewish: 1/272

    • Total population: 1/2503

    • French Canadian, Louisiana Cajun, and Ashkenazi Jewish: 1/273

    • British Isles or Irish: range between 1/50 to 1/1503

    • Equally affects males and females

++

Clinical Findings

++

Signs and Symptoms

++

  • Deafness

  • Blindness

  • Loss of gag reflex

  • Difficulty swallowing

  • Muscle weakness

  • Hypotonia

  • Dementia

  • Irritability

  • Seizures

  • Paralysis

  • Regression in gross motor and fine motor skills

  • Cherry-red spot on eyes

++

Possible Contributing Causes

++

  • Progressive autosomal recessive genetic disorder

  • Both parents must carry the defective Tay-Sachs gene, the child has a 25% chance of developing the disease

++

Differential Diagnosis

++

  • Gaucher disease

  • Niemann-Pick disease

  • Danshoff disease

  • Hepatosplenomegaly

++

Functional Implications

++

  • Progressive muscle weakness resulting in decline in gross and fine motor skills such as inability to sit, ambulate or feed self

++

Means of Confirmation or Diagnosis

++

Laboratory Tests

++

  • Blood test for hexosaminidase levels

++

Diagnostic Procedures

++

  • DNA analysis

++

Referrals/Admittance

++

  • Geneticist

  • Neurologist

  • Ophthalmologist

  • Speech pathologist

++

Impairments

++

  • Inability to roll

  • Inability to commando crawl or creep on hands and knees

  • Inability to sit

  • Inability to ambulate

++

Tests and Measures

++

  • Early intervention developmental profile

  • Neonatal behavioral assessment scale

  • Pediatric evaluation of disability inventory

  • Manual muscle test

++

Intervention

++

  • Developmental activities to:

    • Prevent loss of motor milestones

    • Prevent loss of muscle strength

  • Therapeutic exercise to:

    • Prevent muscle contractures

    • Strengthen

    • Stretch

  • Functional activities

    • Transfers

    • Gait training

    • Stair climbing

++

Functional Goals

++

  • Sit supported in adaptive chair for 15 minutes during play activities in 1 month.

  • Prevent loss of range of motion to allow for optimal positioning within 3 months.

  • Take steps in a gait trainer to allow for independent mobility and upright function within 4 months.

  • Transfer from wheelchair to/from classroom chair with moderate assistance in 6 months.

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.