aceruloplasminemia

info · Genetic

An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

Signs and symptoms

Torticollis
Scanning speech
Dysarthria
Cogwheel rigidity
Ataxia
Chorea
Abnormality of extrapyramidal motor function
Increased circulating ferritin concentration
Diabetes mellitus
Decreased circulating iron concentration