What is Tay Sachs Disease?

Tay Sachs Disease is a rare genetic disorder characterized by neurological problems. It is caused by the absence of an enzyme that degrades fatty substances [1]. The fatty substances accumulate to toxic levels in the brain and spinal cord. It also affects the function of nerve cells.

 

There are three forms of Tay Sachs Disease

1. The most common and severe form of Tay Sach disease. It begins to show symptoms at about 3 to 6 months of age
2. The juvenile form of Tay Sachs disease is the less common type. People with this type may live up to their teenage
3. Rarely, some adults have a late-onset form of Tay-Sachs disease, which is often less severe as compared to forms that begin in childhood

 

 

 

What are the Symptoms of Tay Sachs Disease?

The symptoms of Tay Sachs Disease are categorized into three groups. [2]

 

Infantile form is the most severe form and typically begins at 3-6 months. The signs and symptoms are as follows:

• Excessive response when the baby hears noises
• Muscle weakness
• Progression to paralysis
• Cherry red spot in the eyes
• Loss of motor skills such as turning over, crawling, and sitting up
• Seizures
• Loss of vision or blindness
• Hearing loss
• Difficulty in swallowing
• Progressive Macrocephaly
• Loss of mental functions
• Lack of response to surrounding

 

The signs and symptoms of juvenile form are:

• Seizures
• Behavior problems
• Loss of movement control
• Gradual loss of skills
• Frequent respiratory infections
• Slow loss of vision
• Slow loss of speech
• Decline in brain function

 

The signs and symptoms of late-onset/adult form Tay Sachs Disease are:

• Muscle weakness
• Clumsiness and loss of coordination
• Tremors
• Muscle spasms
• Loss of ability to walk
• Psychiatric disorder
• Problem in speaking
• Swallowing issues
• Loss of mental function

 

 

 

What are the Causes of Tay Sachs Disease?

Tay Sachs disease is an autosomal recessive disorder. A mutation in the gene HEXA causes it. HEXA encodes for the enzyme beta-hexosaminidase A. [3]

 

HEXA is located at 15q23. More than 150 substitutions have been detected so far. It includes single gene deletion, substitution, insertion splicing alterations, duplications, and complex gene rearrangements. [4]

 

 

 

What are the Treatment Options for Tay Sachs Disease?

There is no definitive cure for Tay Sachs Disease. The goal of treatment is support and comfort. The supportive treatment options are as follows [5]:

• Medications
• Respiratory care
• Nutrition and Hydration
• Physical Therapy
• Occupational Therapy
• Speech and language therapy

 

Medications such as anti-seizures and antibiotics are used to reduce symptoms. Respiratory care is essential to prevent mucus accumulation in the lungs.

 

The children may have trouble eating and swallowing. So, the doctor may recommend a feeding tube or gastrostomy tube.

A physical therapist can reduce the risk of joint stiffness and maintain the range of motion possible.

Speech and language pathologists can assist with swallowing problems.

 

 

 

References:

1. https://medlineplus.gov/genetics/condition/tay-sachs-disease/
2. https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/symptoms-causes/syc-20378190#:~:text=Tay%2DSachs%20disease%20is%20a,function%20of%20the%20nerve%20cells.
3. https://www.ninds.nih.gov/health-information/disorders/tay-sachs-disease#:~:text=It%20is%20caused%20by%20a,child%20with%20Tay%2DSachs%20disease.
4. https://www.ncbi.nlm.nih.gov/books/NBK564432/
5. https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193

 

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