acanthocytosis

Chorea acanthocytosis is a disease that affects movement in many parts of the body.

If both parents are affected by chorea acanthocytosis, all of the children will also acquire the disease.

There are about 500-1,000 cases of chorea acanthocytosis worldwide and it is not specific to any particular ethnic group.

When mutated, this gene causes chorea acanthocytosis in the affected individual.

Behaviorial changes are an early indicator of chorea acanthocytosis.

Acanthocytosis originated from the Greek word acantha, meaning thorn.

The appearance of symptoms in chorea acanthocytosis usually appear in early to mid-adulthood.

"Chorea Acanthocytosis."

In both cases, the physicians described a hereditary syndrome that combined acanthocytosis with neurological peculiarities but normal serum lipoprotein.

In malnourishment, such as anorexia nervosa and cystic fibrosis, acanthocytosis remits with resolution of the nutritional deficiency.

Main examples are chorea acanthocytosis, pantothenate kinase-associated neurodegeneration and X-linked McLeod syndrome.

McLeod males have variable acanthocytosis due to a defect in the inner leaflet bilayer of the red blood cell, as well as mild hemolysis.

"Acanthocytosis: eMedicine Pediatrics: General Medicine."

Major symptoms of this disorder are wasting of muscles with uncontrolled rapid muscular movements (amyotropic chorea) and abnormal red blood cells (acanthocytosis).

Critchley, E.M.R. et al.: "Acanthocytosis, normolipoproteinemia and multiple tics."

Since chorea acanthocytosis is an autosomal recessive disorder, positive family history for chorea acanthocytosis will confirm the diagnosis.

Mutation of XK protein may lead to McLeod syndrome, a multi-system disorder characterized by hemolytic anemia, myopathy, acanthocytosis, and chorea.

The first sign of chorea acanthocytosis is often behavioral changes that result in personality changes, obsessive compulsive disorder (OCD), and the inability to take care of oneself.

Levine-Critchley syndrome: Acanthocytosis Neuroacanthocytosis with neurologic disorders detailed by Edmund Critchley not Macdonald Critchley).

The symptoms are mostly consistent with the symptoms prevalent in neuroacanthocytosis disorders, also, many people with chorea acanthocytosis uncontrollably bite their tongue, lips, and the inside of the mouth.

The mutation that causes chorea acanthocytosis is passed in an autosomal recessive manner, meaning that both alleles of the gene must be mutated for the person to have the disease.

The gene that determines whether or not a person has chorea acanthocytosis is known as VPS13A (CHAC gene) and is located on chromosome 9q21.

Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities including a condition in which the red blood cells are malformed (acanthocytosis) resulting in low levels of circulating red blood cells (anemia).

Acanthocytosis-Neurologic Disorder Amyotrophic Chorea with Acanthocytosis, Familial Choreoacanthocytosis Levine-Critchley Syndrome None Neuroacanthocytosis is a very rare disorder inherited as an autosomal recessive or possibly an autosomal dominant genetic trait.

They are seen on blood films in, among others abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome and several inherited neurological disorders, such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, ideopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic granulomatous disease.