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Genet Med. 1999 May-Jun;1(4):151-7.

Southwestern Athabaskan (Navajo and Apache) genetic diseases.

Author information

1
Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA. erickson@peds.arizona.edu

Abstract

PURPOSE:

Four apparently unique disorders are known among the Southwestern Athabasan Amerindians, i.e., the Navajo and Apache; they are Athabaskan severe combined immunodeficiency, Navajo neuropathy, Navajo poikiloderma, and Athabaskan brainstem dysgenesis. This study reviews background information on Athabaskan groups and clinical descriptions of these recessive disorders.

METHODS:

The major clinical findings of these four disorders are reviewed. In addition, the findings of epidemiological surveys are included where available.

RESULTS:

Although the importance of genetic bottlenecks in increasing the frequency of rare, sometimes unique, autosomal recessive disorders is known for a number of populations, similar phenomena among Native Americans seem to be less well known.

CONCLUSION:

As many more Native Americans move off the Reservation, the awareness of susceptibility to particular genetic diseases needs to be more widely disseminated.

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