acanthocytosis with chorea
Type: Term
Synonyms: chorea-acanthocytosis
The information shown above for acanthocytosis with chorea is provided by Stedman's.
Acanthocytosis
Overview
Acanthocytes (from the Greek word acantha, which means thorn), or spur cells, are spiculated red cells with a few projections of varying size and surface distribution. The cells appear contracted, dense, and irregular.
Acanthocytosis Causes, Symptoms and Treatment and Related Disorders ...
Acanthocytosis
National Organization for Rare Disorders, Inc.
Synonyms ...
Neuroacanthocytosis
National Organization for Rare Disorders, Inc.
Chorea acanthocytosis is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny.
acanthocytosis
behaviour changes
involuntary movements (chorea, faster, dancing movements; dystonia, more sustained movements and posturing) of the limbs, trunk, neck, face, or parkinsonism (slowed movements and stiffness of limbs) ...
acanthocytosis with neurologic disorder
CHAC
See How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about chorea-acanthocytosis?
Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells).
Alternate Names : Abetalipoproteinemia, Acanthocytosis, Apolipoprotein B deficiency
Definition
Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.
Neuroacanthocytosis: Neuroacanthocytosis, also known as choreoacanthocytosis, is a rare, genetic disorder that most often becomes apparent between the ages of 25 to 45 years. The disorder is usually transmitted as a recessive trait.
Chorea-acanthocytosis is primarily a neurological disorder that ... Chorea refers to the involuntary jerking movements made by people ... Chorea ...
Full article ...
McLeod neuroacanthocytosis syndrome
Where can I find additional information about the blood group gene family?
You may find the following resources about the blood group gene family helpful.
Acanthocytosis ... fatigue, muscle contractures, muscle wasting, ataxia, tremors
Acanthosis nigricans muscle cramps acral enlargement ... muscle cramps
Acarophobia ... trembling
Accelerated hypertension ... weakness, fatigue
Accelerated silicosis ...
They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea).
Alternate names for this disorder include abetalipoproteinemia, acanthocytosis, and apolipoprotein B deficiency. Affected individuals can have severe, irreversible neurological impairments, especially if untreated.
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Definition of Bassen-Kornzweig syndrome:
Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.
Ammonia, Copper, And Acetate; Amyotrophic Choreo-acanthocytosis; Anisotropic Conductive Adhesive; Anterior Cerebral Artery
ACA
Anterior Communicating Aneurysm [or Artery]; Anticapsular Antibody; Anticardiolipin Antibody; Anticentromere Antibody ...
AllRefer Health - Bassen-Kornzweig Syndrome (Abetalipoproteinemia, Acanthocytosis, Apolipoprotein B Deficiency)
5:
AllRefer Health - Familial Dysbetalipoproteinemia (Deficient or Defective Apolipoprotein E, Type III Hyperlipoproteinemia) ...
Atrial, Fusidate, Sodium, GAP-43, Genes, T-Cell Receptor gamma, Hepatitis A Virus, Human, Hospital Joint Purchasing, Interferon, beta 1, Jaw Fixation Technic, LH Receptors, Metaethics, Musculoskeletal Disease, Neoplasm, Vulvar, Neuroacanthocytosis, ...
This disorder was formerly called Bassen-Kornzweig disease after Frank Bassen, a Canadian-born internist and Abraham Kornzweig, a New York ophthalmologist, described it in 1950. It has also been called acanthocytosis from the peculiar shape of the ...
RBC acanthocytosis is a distinguishing feature on blood smear. Diagnosis is made by the absence of apoprotein B (apo B) in plasma; intestinal biopsies show lack of microsomal transfer protein.
 See also: Neuroacanthocytosis, Migraine, Anaemia, Aarskog syndrome, Deficiency
  
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