Frequently asked questions in Tay-Sachs

To understand everything about Tay-Sachs requires knowing what a lot of medical terms mean. We have put together a list of frequently asked questions in Tay-Sachs that we will be continually updating. There are brief descriptions below but you can get a more detailed and easier to follow overview by clicking on the link under each question.

Please visit our forum here if there is anything you would like explained and we will do the research and add it to the list below.

What are the different types of Tay-Sachs?

There are three types of Tay-Sachs which have been classified, these being Infantile, Juvenile or Late Onset Tay-Sachs. The form or type is determined by the age of the individual when symptoms first appear.

A more detailed description of the different types of Tay-Sachs is available here.

What causes Tay-Sachs?

Tay-Sachs is caused by the absence or significantly reduced level of a vital enzyme called beta-hexosaminidase. The gene that causes Tay-Sachs is located on chromosome 15, specifically 15q23-q24.

A more detailed description of what causes Tay-Sachs is available here.

What is ataxia?

Ataxia is the name given to a group of neurological disorders that affect balance, coordination, and speech. There are many different types of ataxia that can affect people in different ways.

A more detailed description of ataxia is available here.

What is autosomal recessive inheritance?

Tay-Sachs is classed as an autosomal recessive disease – this relates to how the disease is passed on genetically. Autosomal recessive inheritance describes the process of how the gene which causes Tay-Sachs passes from parent to child and why the parents as carriers are not affected by the disease but together they are at risk of having children affected by Tay-Sachs.

A more detailed description of autosomal recessive inheritance is available here.

What is a cherry red spot?

A cherry-red spot is an indicator of a number of different lipid storage disease and it describes the appearance of a small circular shape as seen through the fovea centralis which is located in the center of the macula region of the retina.

A more detailed description of a cherry-red spot is available here.

What is Classic Infantile Tay-Sachs?

Classic Infantile Tay-Sachs is the earliest presenting form of Tay-Sachs in children and is the result of a lack or severely reduced level of the Hexosaminidase A (Hex-A) enzyme.

A more detailed description of Classic Infantile Tay-Sachs is available here.

What is decerebrate posturing?

Decerebrate posturing is a symptom of Tay-Sachs and is when someone affected by the disease goes into an abnormal posture.

A more detailed description of what is decerebrate posturing is available here.

What is dysarthria?

Dysarthria is a motor speech disorder resulting from neurological injury of the motor component of the motor-speech system and is characterized by poor articulation. Any of the speech subsystems (respiration, phonation, resonance, prosody, and articulation) can be affected, leading to impairments in intelligibility, audibility, naturalness, and efficiency of vocal communication.

A more detailed description of what is dysarthria is available here.

What is dysphagia?

People with dysphagia have difficulty swallowing and may even experience pain while swallowing (odynophagia). Some people may be completely unable to swallow or may have trouble safely swallowing liquids, foods, or saliva. When that happens, eating becomes a challenge. Often, dysphagia makes it difficult to take in enough calories and fluids to nourish the body and can lead to additional serious medical problems.

A more detailed description of what is dysphagia is available here.

What is Enzyme Replacement Therapy (ERT)?

Enzyme replacement therapy (ERT) is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent.

A more detailed description of Enzyme Replacement Therapy (ERT) is available here.

What is a gastric feeding tube?

A gastric feeding tube is surgically inserted into an individual to help them eat to ensure they get the correct amount of fluid and nutrition.

A more detailed description of a gastric feeding tube is available here.

What is Hexosaminidase A (HEX A)?

Hexosaminidase A (HEX A) is a vital enzyme produced by the body to break down GM2 ganglioside. Tay-Sachs is caused by a lack or reduced level of HEX A.

A more detailed description of Hexosaminidase A (HEX A) is available here.

What is hypotonia (low tone)?

Hypotonia is a state of low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.

A more detailed description of what is hypotonia (low tone) is available here.

What is Late Onset Tay-Sachs?

Late Onset Tay-Sachs (LOTS), also known as Adult Onset Tay-Sachs, is a very rare form of Tay-Sachs which usually occurs in individuals in their 20s and early 30s.

A more detailed description of Late Onset Tay-Sachs is available here.

What is Juvenile Tay-Sachs?

Juvenile Tay-Sachs is a very rare form of Tay-Sachs in children and is the result of a lack or severely reduced level of the Hexosaminidase A (Hex-A) enzyme.

A more detailed description of Juvenile Tay-Sachs is available here.

What is a lysosomal storage disease (LSD)?

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body’s cells – the lysosome – malfunctions.

A more detailed description of what a lysosomal storage disease (LSD) is available here.