Cerebral Poliodystrophy


Type of disease: Rare conditions

Cerebral Poliodystrophy, also known as Alpers’ Disease and Christensen-Krabbe disease, is a genetic condition and affects infants and young children. Spastic limbs, seizures, blindness, and deafness characterize this condition during the first year of life, along with degeneration of the cerebral cortex (the part of the brain that controls memory, attention, language, and consciousness). This condition is autosomal recessive which means an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease. Treatment varies on a case-by-case basis, and depends on the specific defects present. For example, doctors can seek help from various therapists and community services to provide support and care for families affected by intellectual disability due to degeneration of the cerebral cortex.

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