Amyotrophic choreoacanthocytosis: Is it really a very rare disease?
| ISSN: |
1590-3478
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| Keywords: |
Amiotrophy choreoacanthocytosis ; hyperkinesia ; acanthocytosis
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Description / Table of Contents: |
Sommario La coreo-acantocitosi amiotrofica (ACA) è una malattia ereditaria caratterizzata da atrofia muscolare neurogena, ipercinesie (con morsicature della lingua e/o delle labbra), acantocitosi, normalità del quadro lipoproteico ed insorgenza in età adulta. In questo articolo vengono descritti otto casi appartenenti a tre famiglie. Viene messa in discussione la presunta rarità della malattia.
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| Notes: |
Abstract 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.
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| Type of Medium: |
Electronic Resource
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| URL: |