Further Inpatient Care

Irrespective of whether the patient with neuroacanthocytosis (NA) is an outpatient or an inpatient in a general hospital, a rehabilitation center, or a nursing home, elevated CPK level may indicate fulminant neurological disease, particularly due to severe chorea, dyskinesia, or muscle dysfunction.

In some patients, a decrease in the movement disorder secondary to advancing muscle wasting will correlate with a fall in CPK level as the chorea/dyskinesia "burns out."

Complications

Complications include the following:

Sudden death due to cardiomyopathy-related arrhythmia
Congestive heart failure due to cardiomyopathy
Head trauma due to falls
Aspiration related to dysphagia
Muscle wasting partly due to poor nutrition
Rare hemolysis-related splenomegaly/jaundice

Prognosis

In the absence of an understanding of the cause of the disease and in view of the limited success in preventing disease progression, prognosis is, at best, guarded.

In patients with severe neurological disease, particularly those with severe orofacial dyskinesia (with secondary dysphagia), prognosis is poor in view of the high risk of aspiration.

A typical patient with severe NA syndrome that begins in adult life lives for an additional 5 to 10 years.

In patients who have NA and a cardiomyopathy, the prognosis is guarded in view of the risk for sudden cardiac death and congestive heart failure.

The prognosis for a normal life span is often good in some patients with no prominent neurological or cardiac sequelae, even in the presence of significant acanthocytosis.

Patient Education

Families and patients are encouraged to join The Advocacy for Neuroacanthocytosis Patients.

Family members of patients with NA syndrome should be screened for neurological disease, acanthocytosis, and CPK levels.

In the families of patients with NA who have hypobetalipoproteinemia or in families of teenagers who develop NA, family members should be screened for lipid abnormalities and clinical features of NA.

Kell blood group screening should be performed in family members in whom only males have evidence of NA.

In some families the McLeod or Kell null phenotype is the characteristic NA blood group feature.

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Media Gallery

Patient with choreoacanthocytosis. A: Note self-mutilation of the lips owing to orofacial dyskinesia. B: Peripheral blood smear exhibits acanthocytes (Wright-Giemsa, original magnification, >100). C: Coronal view of T1-weighted MRI shows atrophy of the caudate nuclei. Archives of Neurology 64(11):1661-1664 2007 Copyright © 2010 American Medical Association.

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Author

Kenneth B V Gross, MD Founder, Owner, Fusion Clinical Multimedia, Inc, Division of Neurology, Fusion Clinical Multimedia Educational Center

Kenneth B V Gross, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Coauthor(s)

Nicholas Lorenzo, MD, CPE, MHCM, FAAPL Co-Founder and Former Chief Publishing Officer, eMedicine and eMedicine Health, Founding Editor-in-Chief, eMedicine Neurology; Founder and Former Chairman and CEO, Pearlsreview; Founder and CEO/CMO, PHLT Consultants; Former Chief Medical Officer, MeMD Inc

Nicholas Lorenzo, MD, CPE, MHCM, FAAPL is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Association for Physician Leadership

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Nestor Galvez-Jimenez, MD, MSc, MHA The Pauline M Braathen Endowed Chair in Neurology, Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, International Parkinson and Movement Disorder Society

Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida Morsani College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, American Medical Association

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Bioserenity, Ceribell, Eisai, Jazz, LivaNova, Neurelis, Neuropace, SK life science, Sunovion, Takeda, UCB<br/>Serve(d) as a speaker or a member of a speakers bureau for: Aquestive, Bioserenity, Eisai, Jazz, LivaNova, Neurelis, SK life science, Stratus, Sunovion, UCB<br/>Received research grant from: Cerevel Therapeutics, Ovid Therapeutics, Neuropace, Greenwich Jazz, SK Life Science, Xenon Pharmaceuticals, UCB, Marinus, Neuroelectrics Corporation, Longboard, Janssen, Equilibre Biopharmaceuticals.

Additional Contributors

Roberta J Seidman, MD Associate Professor of Pathology, Director of Neuropathology, Department of Pathology, Renaissance School of Medicine at Stony Brook University, Stony Brook Medicine

Roberta J Seidman, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuropathologists, New York Association of Neuropathologists (The Neuroplex)

Disclosure: Nothing to disclose.

Neuroacanthocytosis Syndromes Follow-up

Further Inpatient Care

Complications

Prognosis

Patient Education

References

Tables

Contributor Information and Disclosures

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