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  • 330.1 Cerebral lipidoses

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  • E75.02 Tay-Sachs disease

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Description

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  • 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.

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Essentials of Diagnosis

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  • Genetic defect of chromosome 15

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General Considerations

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  • 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.

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Demographics

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  • 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

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Signs and Symptoms

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  • 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

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Possible Contributing Causes

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

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Differential Diagnosis

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  • Gaucher disease
  • Niemann-Pick disease
  • Danshoff disease
  • Hepatosplenomegaly

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Functional Implications

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

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Laboratory Tests

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  • Blood test for hexosaminidase levels

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Diagnostic Procedures

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  • DNA analysis

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  • Geneticist
  • Neurologist
  • Ophthalmologist
  • Speech pathologist

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  • Inability to roll
  • Inability to commando crawl or creep on hands and knees
  • Inability to sit
  • Inability to ambulate

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  • Early intervention developmental profile
  • Neonatal behavioral assessment scale
  • Pediatric evaluation of disability inventory
  • Manual muscle test

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  • 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

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  • 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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  • Infantile form: Child life expectancy is between 4 or 5 years old.1

1. American Physical Therapy Association. Interactive Guide to Physical Therapy Practice. Atlanta: American Physical Therapy Association; 2003. http://guidetoptpractice.apta.org. Accessed October 21, 2011.
2. Tay-Sachs Disease. A.D.A.M. Encyclopedia. PubMed Health. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/. Accessed December 3, 2011.
3. Tay-Sachs Disease. National Tay-Sachs & Allied Diseases. ...

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