Tay-Sachs Disease, Its Signs and Symptoms


The causal factor for Tay-Sachs disease is a genetic mutation occurring in the HEXA gene (Yerramilli-Rao, Giannikopoulos, Kublis, Pan, & Eichler, 2012). Genetic mutations represent a lasting modification in the DNA chain that forms the gene; this results in the malfunction of one or many progressions in a person’s body. Tay-Sachs disease is an unusual and often lethal genetic problem that leads to the continued devastation of the nervous system.

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In most instances, signs and symptoms start appearing prior to a baby attaining the age of six months. After falling ill, the development of such babies holds back, and they steadily lose their capability to move. The highly identifiable early signs encompass red spots surfacing close to the center of the eyes and the baby being exceedingly troubled by abrupt noises. Such children then start having problems, for instance, weakness of the muscles, seizures, and the loss of sight and ability to hear. The majority of the babies who develop the disease pass away before their fourth birthday. Other less common types of the disease might show in later life, such as in childhood or in the course of adulthood. Such forms of the disease often progress slowly though they could also be fatal.

Signs and Symptoms

Infantile Tay-Sachs

Infantile Tay-Sachs disease is identified characteristically in infants at about six months of age where they display an abnormally strong reaction to abrupt noises or other stimuli, referred to as the startle retort attributable to the manner in which they become frightened. There could as well be the tautness of muscles (being hypertonic) or listlessness (Nakamura et al., 2015). The disease is grouped into different types, which are distinguished by the age of the commencement of neurological signs.

Studies affirm that in most instances of Infantile Tay-Sachs, babies start showing noticeable signs when they are at the age of about three to six months. Amid the earliest identifiable signs of the disease is the emergence of a red spot in the middle of the eyes. It could be as well easy to realize that the vision in such children deteriorates, and they start being greatly startled by movement and rackets. It is probable for such babies to become very slow in attaining developmental stages, for instance, learning to creep.

Devoid of some minor signs, infants who have the condition seem to grow in a normal way until their sixth month. However, severe signs and symptoms normally become evident when the baby is approximately eight months old and can speedily turn lethal. After eight months, neurons start swelling with ganglioside molecules resulting in a relentless worsening of physical and psychological functions. The baby could then lose sight and hearing ability, find it impossible to swallow, and become paralytic and wasted (Stendel et al., 2015).

At this point, the progression of the disease happens fast, and the affected children usually die by the age of four or five years. In the case of emergency symptoms such as seizure and difficulty in breathing, parents or guardians are advised to take the baby to the emergency room or call the doctor immediately. The major symptoms of Infantile Tay-Sachs encompass the following:

  • Red spots in the eyes (the section close to the middle of the retina);
  • Sluggish growth;
  • Enhanced startle reaction;
  • Weakened strength of the muscles;
  • Seizure;
  • Stiffness of the muscles (hypertonia);
  • Slow psychological and social advancement;
  • Loss of muscle operation or paralysis;
  • Loss of sight;
  • Deafness.

Other Types of Tay-Sachs

Apart from the Infantile Tay-Sachs, there is also the Juvenile Tay-Sachs, Chronic, and Adult/Late-onset Tay-Sachs (Aronson & Volk, 2013). The three conditions are rare although they have a tendency of being mild in lethality. Before 1980, the time that the molecular occurrence of the ailment was identified, the Juvenile and the Late-onset types of Tay-Sachs were not majorly accepted as forms of the condition; varieties of the malady occurring after infancy were usually misdiagnosed. The fatality of the symptoms, as well as life expectancy, in the dissimilar forms of Tay-Sachs, differs.

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Juvenile Tay-Sachs Disease

This form of the disorder is uncommon and is often initially apparent in children from two to ten years of age (Aronson & Volk, 2013). Individuals with Juvenile Tay-Sachs usually start experiencing cognitive and motor capacity worsening, ataxia, hypertonia, speech disorder, and dysphagia. In most instances, the individuals having the Juvenile type of Tay-Sachs characteristically show the signs and symptoms from the age of two years. In this condition, the person usually passes away between the age of 5 and 15 years.


The signs of the chronic type of Tay-Sachs may start at some point between babyhood and the time a child attains ten years of age. Following the development of the symptoms, the progression of the condition happens gradually. Whereas this condition of Hexosaminidase A insufficiency could result in a range of movement challenges, the decline of verbal proficiencies and thinking ability have a tendency of occurring later when judged against the Juvenile Tay-Sachs (Whitley, Diethelm-Okita, & Utz, 2013). The signs and symptoms of the chronic form encompass inaudible communication, spasm, and tremors.

Adult/Late-Onset Tay-Sachs Disease

The Adult/Late-Onset condition is often the rarest, and its first signs occur from the age of thirty to forty years; this condition is mostly misdiagnosed. Contrary to the other forms of the condition, the Adult-Onset Tay-Sachs is often nonlethal since the progress of the disease may come to a halt. The Late-Onset Tay-Sachs is typified by unsteadiness of pace, as well as gradual neurological worsening (Deik & Saunders‐Pullman, 2014).

Some of the signs and symptoms that may characteristically start developing in early adulthood or sometimes adolescence encompass swallowing and communication setbacks, instability of gait, muscle spasm, cognitive challenges, and psychiatric problems. Adult-Onset Tay-Sachs is the mildest condition, and the affected individuals could turn out to be permanent wheelchair users when the condition worsens. Individuals with Late-Onset Tay-Sachs often have the following signs:

  • Loss of reminiscence;
  • Inaudible speech;
  • Tremors;
  • Unstable pace;
  • The frailty of the muscles.


The causal aspect for Tay-Sachs disease is genetic mutation arising in the HEXA gene, which results in the malfunction of one or many processes in a person’s body. Babies who develop Infantile Tay-Sachs start having problems, for instance, weakness of the muscles, spasms, and the loss of sight and capacity to hear. Most babies who develop the disease pass away before attaining four years of age. Other less common types of the disease, Juvenile, Chronic, and Adult-Onset Tay-Sachs, might show in childhood, adolescence, or in the course of adulthood. Such types of diseases often develop slowly though they could also be deadly.


Aronson, S. M., & Volk, B. W. (Eds.). (2013). Cerebral sphingolipidoses: A symposium on Tay-Sachs’ disease and allied disorders. Amsterdam, Netherlands: Elsevier.

Deik, A., & Saunders‐Pullman, R. (2014). Atypical presentation of late‐onset Tay‐sachs disease. Muscle & Nerve, 49(5), 768-771.

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Nakamura, S., Saito, Y., Ishiyama, A., Sugai, K., Iso, T., Inagaki, M., & Sasaki, M. (2015). Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay–Sachs disease. Brain and Development, 37(1), 101-106.

Stendel, C., Gallenmüller, C., Peters, K., Bürger, F., Gramer, G., Biskup, S., & Klopstock, T. (2015). Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene. Journal of Neurology, 262(4), 1072-1073.

Whitley, C., Diethelm-Okita, B., & Utz, J. (2013). A longitudinal study of hexosaminidase deficiency (Tay–Sachs disease, Sandhoff disease). Molecular Genetics and Metabolism, 108(2), 98-99.

Yerramilli-Rao, P., Giannikopoulos, O., Kublis, K., Pan, J., & Eichler, F. (2012). The natural history of Late-Onset Tay-Sachs disease. Molecular Genetics and Metabolism, 105(2), 67.

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