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Tay-sachs disease (TSD): Treatment, symptoms, advice and help

About Tay-sachs disease

Tay-Sachs disease is associated with the storage of GM2 ganglioside and progressive central nervous system degeneration.

Tay-sachs disease: Incidence, age and sex

The disorder is most common in individuals of Eastern European Jewish ancestry, among whom the carrier rate is 1 in 27.

Signs & symptoms of Tay-sachs disease: Diagnosis

Affected children are usually normal at birth. Between 6 and 12 months of age, hypotonia and psychomotor retardation become evident. An exaggerated startled response to stimuli may be noted. Starting at approximately 1 year of age, spasticity, loss of vision, seizures, and macrocephaly may develop. Cherry-red spots in the macular area may be seen as early as 3 months of age and represent a normal red macular area surrounded by a white area of storage. Later in the disorder, the spots appear dark brown as macular degeneration advances. The diagnosis is confirmed by measurement of hexosaminidase A in serum, plasma, peripheral leukocytes, or cultured skin fibroblasts.

Causes and prevention of Tay-sachs disease

Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. It is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child. TSD may rarely arise in any generation from a novel mutation. The defective gene causes insufficient activity of an enzyme called hexosaminidase A that normally breaks down lipids. When Hexosaminidase A is no longer functioning properly, the lipids accumulate in the brain and interfere with normal biological processes.

The current recommendation in that all couples of East European Jewish ancestry and couples who have a child with TSD have carrier testing performed before conception so that timely and appropriate genetic counseling can be given. Prenatal diagnosis is available using chorionic villi sampling or amniocentesis.

Complications of Tay-sachs disease

A relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to weaken and paralysis sets in. Intercurrent respiratory problems frequently occur. Most affected children die between 3 and 4 years of age.

Tay-sachs disease: Treatment

There is currently no cure or treatment for TSD. Patients receive palliative care to ease the symptoms. Infants are given feeding tubes when they can no longer swallow.