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Tay-Sachs disease
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Tay-Sachs disease

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Contributors: Jamie Adams MD
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Synopsis

An autosomal recessive lysosomal storage disorder caused by hexosaminidase A deficiency. This results in accumulation of lipids (GM ganglioside) in nerve cells, which leads to progressive neurodegeneration. Symptoms begin around 4-6 months of age. Signs and symptoms include developmental delay, weakness and eventual paralysis, increased startle response, hypertonia, cognitive and motor deterioration, cherry red macula, vision and hearing loss, seizures, and dysphagia. Prognosis is poor and most die by age 4 (in the most common or infantile form of the disease).

For more information, see OMIM.

Codes

ICD10CM:
E75.02 – Tay-Sachs disease

SNOMEDCT:
111385000 – Tay-Sachs disease

Differential Diagnosis & Pitfalls

No hepatosplenomegaly in Tay-Sachs helps differentiate this from other lysosomal storage disorders.

Best Tests

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References

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Last Updated: 03/29/2017
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Tay-Sachs disease
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Tay-Sachs disease : Seizures, Cherry red spot, Hyperreflexia, Hypotonia, Muscle weakness, Vision loss, Developmental delay
Copyright © 2019 VisualDx®. All rights reserved.