Neuroacanthocytosis

Overview

An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Neuroacanthocytosis

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.662.262.249.937|C16.320.400.550

Preparing for an appointment about Neuroacanthocytosis

If you are speaking with a healthcare professional about Neuroacanthocytosis, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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