Health A-Z

Gangliosidosis GM2 Type 2, also known as Tay-Sachs disease, is a rare genetic disorder characterized by the deficiency of an enzyme called hexosaminidase A. This enzyme deficiency results in the accumulation of a fatty substance called GM2 ganglioside in the nerve cells of the brain and spinal cord, leading to progressive neurological deterioration.

1. Developmental Delay: Children with Tay-Sachs typically show signs of developmental delay within the first few months of life.
2. Loss of Motor Skills: As the disease progresses, affected individuals may experience a loss of motor skills, including the ability to crawl, sit, and eventually walk.
3. Muscle Weakness: Muscle weakness is common and may worsen over time, leading to paralysis.
4. Seizures: Seizures may occur in some individuals with Tay-Sachs disease.
5. Vision and Hearing Loss: These may occur as the disease progresses.
6. Swallowing Difficulties: As muscle control deteriorates, swallowing difficulties may develop.
7. Intellectual Disability: Cognitive decline is a hallmark feature of Tay-Sachs disease, with affected individuals experiencing intellectual disability.

Unfortunately, there is currently no cure for Tay-Sachs disease. Treatment primarily focuses on managing symptoms and providing supportive care to improve.

1. Symptomatic Treatment: Medications may be prescribed to manage symptoms such as seizures, muscle spasms, and respiratory difficulties.
2. Physical and Occupational Therapy: These therapies can help maintain muscle strength and mobility and improve overall function.
3. Nutritional Support: Adequate nutrition and hydration are essential to support overall health and prevent complications such as malnutrition and dehydration.
4. Respiratory Support: In advanced stages of the disease, respiratory support such as assisted ventilation may be necessary to help with breathing.

1. Genetic Testing: The definitive diagnosis of Tay-Sachs disease is made through genetic testing, which identifies mutations in the HEXA gene responsible for encoding hexosaminidase A.
2. Enzyme Assay: A laboratory test measuring the activity of hexosaminidase A in leukocytes, serum, or cultured skin fibroblasts can be performed. Reduced levels of this enzyme confirm the diagnosis.
3. Prenatal Testing: Genetic testing can be conducted during pregnancy to determine whether the fetus has inherited the mutated genes associated with Tay-Sachs disease.
4. Carrier Testing: Genetic testing can also be performed on individuals who are carriers of Tay-Sachs disease to assess their risk of passing the mutation to their offspring.