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Tay-Sachs disease
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Tay-Sachs disease

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Contributors: Bo Hoon Lee MD, Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in the HEXA gene, which encodes for the alpha-subunit of hexosaminidase A. Deficiency of this enzyme results in accumulation of lipids (GM2 ganglioside) in nerve cells. Tay-Sachs disease is primarily seen in the Ashkenazi Jewish population.

In the infantile form, the initial symptom is most often an exaggerated startle response, particularly to loud noises. Other common signs and symptoms include developmental delay, weakness and eventual paralysis, hypertonia, cognitive and motor deterioration, cherry-red macula, vision and hearing loss, seizures, and poor feeding. There is often a characteristic enlargement of the head that occurs between the first and second year of life. The prognosis is poor, and most individuals have a progressive neurologic decline leading to death within the first few years of life.

There are later-onset presentations of Tay-Sachs disease: juvenile- and adult-onset forms. Clinically, there is a slow progression of neurologic symptoms and disability. Juvenile onset frequently presents with coordination difficulties. Adult-onset presentation often includes progressive muscle weakness and atrophy, especially of the legs, along with dysarthria. Cognitive declines in memory and attention along with personality changes, depression, and sometimes psychosis are also prominent.

For more information, see OMIM.

Codes

ICD10CM:
E75.02 – Tay-Sachs disease

SNOMEDCT:
111385000 – Tay-Sachs disease

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

There is no hepatosplenomegaly in Tay-Sachs disease, which helps differentiate it from other lysosomal storage disorders.

Infantile form:
Adult-onset form:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 12/19/2019
Last Updated: 01/10/2020
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Tay-Sachs disease
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Tay-Sachs disease (Infantile onset) : Seizures, Cherry red spot, Hearing loss, Hypotonia, Muscle weakness, Vision loss, Developmental delay
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