Sandhoff Disease is a rare and devastating genetic disorder that falls under the category of lysosomal storage diseases. It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. This disorder is caused by a deficiency of the enzyme beta-hexosaminidase, which leads to the accumulation of harmful substances in the body's cells.
The prevalence of Sandhoff Disease is estimated to be approximately 1 in 260,000 to 1 in 600,000 live births worldwide. Although it is considered a rare condition, its impact on affected individuals and their families is profound. Symptoms typically manifest in infancy or early childhood and progressively worsen over time, leading to severe neurological impairment, muscle weakness, and eventual loss of motor skills.
Due to its rarity, Sandhoff Disease often goes undiagnosed or misdiagnosed, making it challenging to determine the exact prevalence. Genetic testing and counseling play crucial roles in identifying carriers and providing support to affected families. Ongoing research and advancements in medical science aim to improve early detection, treatment options, and ultimately find a cure for this devastating disorder.