What is Aceruloplasminemia?
Aceruloplasminemia is an inherited disorder which causes high levels of iron to accumulate in the brain and other internal organs. It is a very rare disorder. 32 cases have been reported in the medical literature in the past 10 years. Aceruloplasminemia is more frequently found in Japan, where it’s prevalence is estimated to be 1 in 200,000 of the general Japanese population.
What are the symptoms of Aceruloplasminemia?The symptoms and severity of Aceruloplasminemia vary from one person to another even among members of the same family. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. The age of onset varies as well, ranging from anywhere between the 20’s and 60’s. Common symptoms of Aceruloplasminemia include:
- Retinal degeneration
- Neurological symptoms
- Diabetes mellitus
- Elevated iron levels in the blood
- Shoulders, hips, and face are subject to jerky involuntary movements