Neuroacanthocytosis
Neuroacanthocytosis
Neuroacanthocytosis (pronounced: neuro-uh-kantho-sy-tosis) is a rare, genetically inherited disorder characterized by the alteration of red blood cells into a spiked or thorny appearance, known as acanthocytes, and neurological abnormalities.
Etymology
The term 'Neuroacanthocytosis' is derived from three Greek words: 'neuro' meaning nerve, 'akantha' meaning thorn, and 'osis' meaning condition. Thus, it refers to a condition where nerve cells and thorny red blood cells are affected.
Symptoms
The symptoms of Neuroacanthocytosis are diverse and may include chorea, a condition characterized by involuntary, irregular movements, epilepsy, dystonia, a disorder characterized by involuntary muscle contractions, and neuropathy, a condition resulting from damage to the peripheral nerves.
Diagnosis
Diagnosis of Neuroacanthocytosis is typically made through a combination of clinical examination, family history, and specific laboratory tests. These tests may include a blood smear to identify the presence of acanthocytes and genetic testing to confirm the presence of mutations associated with the disorder.
Treatment
Treatment for Neuroacanthocytosis is primarily symptomatic and supportive. This may include medications to manage chorea and epilepsy, physical therapy for dystonia, and other interventions as needed.
Related Terms
External links
- Medical encyclopedia article on Neuroacanthocytosis
- Wikipedia's article - Neuroacanthocytosis
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