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Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome.

OBJECTIVE: To document life expectancy and causes of death in chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS).

METHODS: We reviewed our personal databases and the published literature to identify cases of ChAc and MLS for whom adequate information was available regarding ages of disease onset and death, cause of death, and other clinical information.

RESULTS: Adequate information was obtained on 52 patients with ChAc and 34 with MLS. Causes of death included pneumonia, cardiac disease, seizure, suicide, and sepsis. Mean disease duration from diagnosis was 11 years for ChAc, while for MLS it was 21 years.

CONCLUSIONS: Given the current data, causes of death in ChAc and MLS are similar to those for the phenotypically similar Huntington's disease, with additional risks due to the presence of seizures and cardiac disease. Suicidality was seen in 10% of patients with ChAc. Identifying causes of mortality is valuable for disease management and ultimately for clinical trials. In the absence of disease-modifying agents, disease management should focus upon treating symptoms which may contribute to morbidity.

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