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ICD-9-CM Code

  • 330.1 Cerebral lipidoses

ICD-10-CM Code

  • E75.02 Tay-Sachs disease

Preferred Practice Pattern1

Key Features


  • 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.


  • 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


  • Geneticist

  • Neurologist

  • Ophthalmologist

  • Speech pathologist


  • 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


  • 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.

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