eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases

Neuroacanthocytosis Syndromes: Follow-up

Author: Kenneth B Gross, MD, Founder, Owner, Fusion Clinical Multimedia, Inc, Division of Neurology, Fusion Clinical Multimedia Educational Center
Coauthor(s): Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Contributor Information and Disclosures

Updated: Dec 17, 2008

Follow-up

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

  • 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.
 


More on Neuroacanthocytosis Syndromes

Overview: Neuroacanthocytosis Syndromes
Differential Diagnoses & Workup: Neuroacanthocytosis Syndromes
Treatment & Medication: Neuroacanthocytosis Syndromes
Follow-up: Neuroacanthocytosis Syndromes
References
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Further Reading

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Keywords

acanthocytosis, spiked red blood cells, chorea, orofacial tics, amyotrophy, hyper-CKemia, normobetalipoproteinemia, chorea-acanthocytosis, degeneration of the basal ganglia, classic adult neuroacanthocytosis disorder, neuroacanthocytosis variant, NA, Bassen-Kornzweig syndrome, neuroacanthocytosis syndromes

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Contributor Information and Disclosures

Author

Kenneth B Gross, MD, Founder, Owner, Fusion Clinical Multimedia, Inc, Division of Neurology, Fusion Clinical Multimedia Educational Center
Kenneth B Gross, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Coauthor(s)

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

Medical Editor

Roberta J Seidman, MD, Director of Neuropathology, Clinical Associate Professor, Department of Pathology, Stony Brook University Medical Center
Roberta J Seidman, MD is a member of the following medical societies: American Academy of Neurology, American Association for the Advancement of Science, and American Association of Neuropathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Nestor Galvez-Jimenez, MD, MSc, MHA, 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, and Movement Disorders Society
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
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, and American Medical Association
Disclosure: Nothing to disclose.

 
 
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