Neuroacanthocytosis Syndromes Follow-up

Updated: Oct 16, 2018
  • Author: Kenneth B V Gross, MD; Chief Editor: Selim R Benbadis, MD  more...
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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."

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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

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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.

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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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