Tay-Sachs disease

Symptoms

What are the main symptoms of Tay-Sachs disease?

The most common form of Tay-Sachs disease occurs during the first year of life. Initially, infants age without any noticeable signs and symptoms but they usually become apparent between 3 and 6 months. An early sign is that infants may be easily startled; their reaction may be excessive and disproportionate to what startled them. This is called an exaggerated startle response. Tay-Sachs disease causes progressive neurological problems. They may begin to lose previously acquired skills like holding the head up, sitting up or crawling. Infants may be listless, irritable, and not make eye contact. As they age, infants may develop vision problems, hearing loss, muscle weakness, seizures, and intellectual disability. Infants will become less responsive and voluntary actions will decrease. Eventually, paralysis may occur. The disorder is often fatal by 4 years of age. A distinctive finding of Tay-Sachs disease are cherry red spots, which is when the cells of the macula of the eye break down. The macula is the yellowish area near the center of the retina. When these cells break down, they expose the choroid that lies underneath. The choroid is the middle layer of the eye. It is made up of connective tissue and many small blood vessels.

To find a medical professional nearby who can discuss information about Tay-Sachs disease, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
  • Tay-Sachs Disease. The National Organization for Rare Disorders website. Accessed September 20, 2016. http://rarediseases.org/rare-diseases/tay-sachs-disease/
  • Tay-Sachs disease. Genetics Home Reference website. Accessed September 20, 2016. https://ghr.nlm.nih.gov/condition/tay-sachs-disease
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What are the main symptoms of juvenile Tay-Sachs disease?

What are the main symptoms of late onset Tay-Sachs disease?

What are the main symptoms of juvenile Tay-Sachs disease?

Signs and symptoms of the juvenile form of Tay-Sachs disease often become apparent at some point between 3 and 10 years of age. Ataxia may be the first symptom. Ataxia is a condition where a child has problems with voluntary movements. This leads to abnormal, uncoordinated movements. Children with ataxia may have difficulty walking or an odd manner of walking. They may appear clumsy. As children age, they may have difficulty talking and slowly lose intellectual capabilities. Seizures and spasticity usually develop by the age of 10. Spasticity is a condition where the muscles are stiff, tight and difficult to control. Loss of vision, degeneration of the main nerve of the eye (optic atrophy) and a condition called retinitis pigmentosa can develop. The disorder gets worse more slowly than does the infantile form. Eventually, most children become unresponsive during their early teen-age years and pass away a few years later.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
  • Baumann N, Turpin J. Tay-Sachs disease. OrphaNet website. Accessed September 20, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=845
What are the main symptoms of late onset Tay-Sachs disease?

Late onset Tay-Sachs disease is a highly variable disorder. This means that the disorder can affect people very differently. Some people may have symptoms in their teen-age years while others may not develop symptoms until later in adulthood. The symptoms that do occur and their severity can also be very different among people with this disorder.

Symptoms that can potentially affect a person with late onset Tay-Sachs disease include problems with voluntary movements that can lead to clumsiness and an abnormal manner of walking (ataxia) and poor eye-to-hand coordination. Muscle wasting and weakness may be seen. Some adults may eventually have problems walking, running, climbing stairs or with similar activities. In severe instances, people may need assistance to walk and will have to use a cane or potentially a wheelchair. Some people may have brief, spontaneous muscle contractions called fasciculations. Slurred speech is also common. Some people may eventually have problems swallowing. This can make it difficult for people to eat or drink. Some adults may develop psychiatric problems including memory loss, behavioral changes, depression, short attention span, and dementia.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
  • Baumann N, Turpin J. Tay-Sachs disease. OrphaNet website. Accessed September 20, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=845
  • Tay-Sachs Disease. The National Organization for Rare Disorders website. Accessed September 20, 2016. http://rarediseases.org/rare-diseases/tay-sachs-disease/

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