Amyotrophic choreoacanthocytosis: is it really a very rare disease?
Amyotrophic choreoacanthocytosis (ACA) is a hereditary disease characterized by adult onset, hyperkinesias (with tongue and/or lip biting), neurogenic muscular atrophies, acanthocytosis and normal blood lipoprotein pattern. In this paper we cite 8 patients belonging to three families, describing 6 patients of two of the families. We query the supposed rarity of the disease.
D000050:Acanthocytes; D000328:Adult; D002784:Cholesterol / Q000097:blood; D002819:Chorea / Q000097:blood / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D003680:Deglutition Disorders / Q000235:genetics; D004913:Erythrocytes, Abnormal; D005260:Female; D005684:Gait; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000097:blood / Q000235:genetics*; D011086:Polycythemia / Q000235:genetics; D014280:Triglycerides / Q000097:blood
D008074:Lipoproteins; D014280:Triglycerides; D002784:Cholesterol; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase