What is the prevalence of Infantile Neuroaxonal Dystrophy?
How many people does Infantile Neuroaxonal Dystrophy affect? Does it have the same prevalence in men and women? And in the different countries?
Infantile Neuroaxonal Dystrophy (INAD) is a rare genetic disorder characterized by progressive degeneration of nerve fibers in the brain and spinal cord. It primarily affects infants and young children. The prevalence of INAD is estimated to be very low, with only a few hundred cases reported worldwide. Due to its rarity, INAD is considered an orphan disease. The condition leads to severe neurological impairment and a shortened lifespan. Early diagnosis and supportive care are crucial in managing the symptoms and improving the quality of life for affected individuals.
Infantile Neuroaxonal Dystrophy (INAD) is an extremely rare genetic disorder that affects the nervous system. It is characterized by the progressive degeneration of nerve fibers in the brain and spinal cord, leading to severe neurological symptoms.
The prevalence of INAD is difficult to determine due to its rarity and the lack of comprehensive data. However, it is estimated to occur in approximately 1 in 100,000 to 1 in 250,000 live births worldwide. INAD is known to affect both males and females, and it typically manifests in early childhood, usually between the ages of 6 months and 2 years.
INAD is caused by mutations in the PLA2G6 gene, which is responsible for producing an enzyme involved in the breakdown of fats in cells. These mutations disrupt the normal functioning of the enzyme, leading to the accumulation of abnormal substances in nerve cells and subsequent neurodegeneration.
Due to its rarity, there is currently no cure for INAD. Treatment mainly focuses on managing symptoms and providing supportive care to improve the quality of life for affected individuals and their families.
