अकेंथोसाइटोसिस इसके अंग्रेजी अर्थ का उदाहरण

* Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.

The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome.

The neuroacanthocytosis syndromes are caused by a range of genetic mutations and produce a variety of clinical features but primarily produce neurodegeneration of the brain, specifically the basal ganglia.

The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood.

In neuroacanthocytosis, acanthocytes are caused by protein but not lipid membrane abnormalities.

The 'core' neuroacanthocytosis syndromes are chorea acanthocytosis and McLeod syndrome.

Some of these features are also seen in the other neurological syndromes associated with neuroacanthocytosis.

In neuroacanthocytosis, this is particularly prominent in the face and mouth which can cause difficulties with speech and eating.

Individuals with neuroacanthocytosis also often suffer from parkinsonism, the uncontrolled slowness of movements, and dystonia, abnormal body postures.

Seizures may also be a symptom of neuroacanthocytosis.

Onset differs between individual neuroacanthocytosis syndromes but is usually between ages 20 and 40.

Core neuroacanthocytosis syndromes.

!colspan"11" bgcolor"white"|Core neuroacanthocytosis syndromes.

| align center |Chorea acanthocytosis.

Chorea acanthocytosis.

Chorea acanthocytosis is an autosomal recessive disorder caused by mutations in the VPS13A, also called CHAC, on chromosome 9q21.

Chorea acanthocytosis is characterised by dystonia, chorea and progressive cognitive, behavioural changes and seizures.

Strikingly, many people with chorea acanthocytosis uncontrollably bite their tongue, lips, and the inside of the mouth.