Adult Sandhoff disease is a rare, progressive, and inherited neurodegenerative disorder characterized by the deficiency of specific enzymes called beta-hexosaminidase A and B. It is considered a variant of Sandhoff disease, which is generally diagnosed in infancy or childhood.
Adult Sandhoff disease is caused by mutations in the HEXB gene, leading to the accumulation of toxic substances called GM2 gangliosides in the brain and spinal cord. This accumulation interferes with normal cellular function, resulting in the deterioration of nerve cells.
Symptoms of adult Sandhoff disease typically appear in early adulthood, ranging from the second to fourth decade of life. Individuals affected by this condition often experience a gradual loss of motor and mental function, including muscle weakness, difficulty walking, muscle stiffness or spasticity, speech problems, and cognitive impairment. They may also develop seizures, tremors, or psychiatric disturbances.
Diagnosis of adult Sandhoff disease involves clinical evaluation, assessing the presence of characteristic symptoms, genetic testing, and measuring levels of hexosaminidase enzyme activity. It is important to differentiate adult Sandhoff disease from other neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) or multiple sclerosis (MS).
Unfortunately, there is currently no cure for adult Sandhoff disease, and treatment focuses on managing symptoms and complications. Supportive measures may include physical and occupational therapy, speech therapy, medications to control seizures or manage psychiatric symptoms, and assistive devices to enhance mobility and communication. Genetic counseling and emotional support are also essential for affected individuals and their families.
