Disease Information for Neuroacanthocytosis, familial

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Clinical Manifestations
Signs & Symptoms
Muscle Atrophy
Athetosis
Chorea signs
Choreoathetoid movement
Choreoathetosis
Dystonia
Progressive neurological disorder/signs
Muscle Wasting/Diffuse
Disease Progression
Course/Progressive
Onset/Adolescence/puberty
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Acanthocytes peripheral smear (Lab)
Burr cells on smear (Lab)
Differential blood smear/morphology abnormal
Abnormal Lab Findings - Increased
Poikilocytes (Lab)
Associated Diseases & Rule outs
Rule Outs
Gilles de Tourette syndrome
Associated Disease & Complications
Acanthocytosis
Neurodevelopmental disorders
Secondary Dystonia
Disease Mechanism & Classification
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
Definition

Neuroacanthocytosis; Acanthocytosis-Neurologic Disorder; Amyotrophic Chorea with Acanthocytosis, Familial; Choreoacanthocytosis; Levine-Critchley Syndrome; Neuroacanthocytosis is a very rare disorder inherited as an autosomal recessive or possibly an autosomal dominant genetic trait; Onset of Neuroacanthocytosis usually occurs during adolescence or early adulthood; Major symptoms of this disorder are wasting of muscles with uncontrolled rapid muscular movements (amyotropic chorea) and abnormal red blood cells (acanthocytosis); [NORD]

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External Links Related to Neuroacanthocytosis, familial
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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