GM2 gangliosidosis, type 2
=GM2 Gangliosidosis, Type 2 =
GM2 Gangliosidosis, Type 2, also known as Sandhoff disease, is a rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. It is one of a group of disorders known as lysosomal storage diseases.
Etiology[edit | edit source]
GM2 Gangliosidosis, Type 2 is caused by mutations in the HEXB gene, which provides instructions for making a part of the enzyme beta-hexosaminidase. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Mutations in the HEXB gene disrupt the activity of beta-hexosaminidase, leading to the accumulation of GM2 gangliosides in the nerve cells, which is toxic and leads to the symptoms of the disease.
Clinical Features[edit | edit source]
The symptoms of GM2 Gangliosidosis, Type 2 typically appear in infancy and include:
- Loss of motor skills
- Increased startle reaction
- Seizures
- Vision and hearing loss
- Intellectual disability
- Muscle weakness
As the disease progresses, children with Sandhoff disease experience an increasing loss of mental and physical abilities. They may become blind, deaf, and unable to swallow. Muscle weakness progresses to paralysis.
Diagnosis[edit | edit source]
Diagnosis of GM2 Gangliosidosis, Type 2 is based on clinical examination, family history, and laboratory tests. Enzyme assay tests can measure the activity of beta-hexosaminidase in the blood or other tissues. Genetic testing can confirm the diagnosis by identifying mutations in the HEXB gene.
Treatment[edit | edit source]
Currently, there is no cure for GM2 Gangliosidosis, Type 2. Treatment is supportive and focuses on managing symptoms and improving quality of life. This may include:
- Anticonvulsant medications to control seizures
- Physical therapy to maintain mobility
- Nutritional support
Prognosis[edit | edit source]
The prognosis for individuals with GM2 Gangliosidosis, Type 2 is poor. The disease is typically fatal in early childhood, often by age 3 to 5.
Research[edit | edit source]
Research is ongoing to find effective treatments for GM2 Gangliosidosis, Type 2. Approaches being studied include gene therapy, enzyme replacement therapy, and substrate reduction therapy.
See Also[edit | edit source]
- Tay-Sachs disease
- Lysosomal storage disease
- Genetic disorder
- National Institute of Neurological Disorders and Stroke (NINDS)
- Genetic and Rare Diseases Information Center (GARD)
NIH genetic and rare disease info[edit source]
GM2 gangliosidosis, type 2 is a rare disease.
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Contributors: Prab R. Tumpati, MD
