What is the prevalence of Alpers-Huttenlocher Syndrome (AHS)?
How many people does Alpers-Huttenlocher Syndrome (AHS) affect? Does it have the same prevalence in men and women? And in the different countries?
Alpers-Huttenlocher Syndrome (AHS) is a rare genetic disorder characterized by progressive degeneration of the brain's gray matter, leading to severe neurological impairment. It primarily affects infants and young children. The prevalence of AHS is estimated to be very low, with only a few hundred cases reported worldwide. Due to its rarity, AHS is considered an orphan disease. Early diagnosis and management are crucial for improving the quality of life for individuals affected by this devastating condition.
Alpers-Huttenlocher Syndrome (AHS) is an extremely rare genetic disorder that primarily affects the central nervous system. It is characterized by a progressive degeneration of the brain's gray matter, leading to severe neurological symptoms. AHS typically manifests in early childhood, with symptoms including seizures, developmental regression, liver dysfunction, and muscle weakness.
Due to its rarity, the prevalence of AHS is difficult to determine precisely. However, studies suggest that it occurs in approximately 1 in 100,000 to 1 in 500,000 individuals. The syndrome is thought to be inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.
Given its low prevalence, AHS poses significant challenges for diagnosis and treatment. The progressive nature of the disorder often leads to a decline in cognitive and physical abilities, severely impacting the affected individual's quality of life. Early detection and comprehensive medical management are crucial in providing supportive care and optimizing outcomes for individuals with AHS.
