Aceruloplasminemia News and Information
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Aceruloplasminemia is a rare genetic disorder marked by the abnormal accumulation of iron in the brain and various internal organs. People with Aceruloplasminemia develop neurological symptoms including cognitive impairment and movement disorders. They may also experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene. This mutation is inherited as an autosomal recessive trait.