Tay-Sachs Disease Symptoms

Genes are the most important components that make up an individual. Any misplacement, addition, deletion, mutation of genes leads to a genetic disorder. These genetic disorders are for life, as they are irreversible. One such genetic disorders is the Tay-Sachs disease. This is an autosomal recessive genetic disorder, that means one copy of the defective gene needs to be passed on from both parents. This disease is characterized by progressive mental and physical deterioration in the child. The Tay-Sachs disease symptoms begin to appear around six months of age. Most children with this disease do not survive longer than their fourth birthday.

Tay-Sachs Disease Causes
Before we have a look at the Tay-Sachs disease symptoms, let us understand the causes. The Tay-Sachs disease causes damage to the nerve cells in the brain. This disease is one of the severe forms of a group disorder that occurs due to Hexosaminidase A deficiency. The lack of this protein Hexosaminidase A causes fatty substance GM2 ganglioside to build up in the brain. When GM2 ganglioside accumulates more than the normal levels, it causes Tay-Sachs. When both parents are carriers of the HEXA gene, the disease is passed on to the child. However, if the child inherits one defective gene and one normal gene from both parents, the child shows no Tay-Sachs disease symptoms. Instead, he is called carrier of the disease. This disease can affect any child of any cultural or ethical background. However, it is more apparent in the Ashkenazi Jewish descendants.

Symptoms of Tay-Sachs Disease
This progressive fatal disease tends to occur in three forms. These forms occur as the fatty substance begins to build up in the brain. These three forms are infantile onset, juvenile onset and adult onset. The best of treatment and care, will however lead to death to all children with infantile onset.

Symptoms in Infantile
The infantile onset of this disease begins to appear in the first three to six months. The symptoms of Tay-Sachs disease in infants are as follows:

• Slow growth development
• Weak muscles
• Loss of motor skills like sitting, crawling and turning around in sleep
• Seizures
• Increase in reflex towards noise
• Loss of vision, hearing
• Inability to swallow
• Mental retardation
• Paralysis

These children show an eye abnormality called the cherry-red spot. This spot is visible during eye examination and is known to be a characteristic of this disease. Most children do not survive longer than their 4th or 5th birthday.

Symptoms in Juvenile
This is a very rare form of Tay-Sachs disease. This disease manifests itself when the child reaches the age of 2 to 10 years. The symptoms of Tay-Sachs disease in juveniles include:

• Cognitive disabilities
• Loss of motor skills
• Dysarthria (speech difficulty)
• Dysphagia
• Ataxia
• Spasticity

Most children with juvenile Tay-Sachs disease die between the age of 5 to 15 years.

Symptoms in Adults
The adult or late onset Tay-Sachs disease is also rare disease related to this condition. The onset of the disease begins to appear when the patient is in their late 20s or early 30s. This condition is not fatal like the other two forms. The symptoms include unsteady gait and progressive neurological deterioration. Other symptoms may include swallowing difficulty, spasticity, psychiatric illness, etc.

Tay-Sachs Disease Diagnosis
The disease is diagnosed by measuring the hexoaminidase A levels in body. An eye examination helps the doctor spot the characteristic cherry-red spot in the eye macula.

Tay-Sachs Disease Treatment
There is no treatment or cure for Tay-Sachs disease. The treatment usually involves controlling the Tay-Sachs disease symptoms.

If one is unsure, they should undergo genetic testing to find out if they are carriers of the HEXA gene. Genetic counseling will help one answer doubts related to genetic disorders. Hope the above paragraphs have helped you answer some of your questions regarding the Tay-Sachs disease.