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Mark W. Becher, MD; Leslie Morrison, MD; Larry E. Davis, MD; Wusi C. Maki, PhD; Molly K. King, MD; Joseph M. Bicknell, MD; Brian L. Reinert; Claire Bartolo, PhD; David G. Bear, PhD

JAMA. 2001;286:2437-2440.

Context  Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for poly(A) binding protein 2 (PABP2) and is found in isolated cohorts throughout the world. We have observed numerous cases of OPMD in New Mexico.

Objective  To characterize the clinical, genetic, and demographic features of the OPMD population in New Mexico.

Design, Setting, and Participants  Cohort study with analysis of outpatient clinic medical records from 1965 to 2001 at the University of New Mexico Hospital and the New Mexico VA Health Care System in Albuquerque, which serve the entire state.

Main Outcome Measures  Clinical phenotype, supplemented with genetic confirmation (n = 10 patients) and in-depth clinical evaluations (n = 49 patients).

Results  We identified 216 cases of OPMD (99 women and 117 men) from 39 kindreds of New Mexicans spanning up to 4 generations. All patients were Hispanic, and the majority of probands came from northern New Mexico. In patients who had both ocular and pharyngeal muscle weakness, ptosis was just as likely to occur before or concurrent with dysphagia. Proximal limb muscle weakness and gait abnormalities were common and occurred later than ocular or pharyngeal weakness. The clinical expression of OPMD caused marked debility, although life-table analysis showed no decrease in life expectancy compared with unaffected family members (P = .81). Ten individuals from different kindreds were found to have an identical polyalanine triplet repeat expansion ([GCG]₉) in the PABP2 gene.

Conclusions  Individuals in this cohort had clinical and genetic characteristics of classic OPMD. Longevity was not affected, but patients experienced considerable morbidity. The origin of the PABP2 mutation in New Mexican OPMD patients is unclear, although the geographic and genetic isolation of northern New Mexicans with a long ancestry in this region may have contributed to the development of this cohort. This disease cohort represents a large and previously unrecognized health care issue in the state of New Mexico and should serve to raise the awareness of this disorder among clinicians who treat Hispanics in the Southwest and throughout the United States.

Author Affiliations: Departments of Pathology (Drs Becher and Bartolo), Neurology (Drs Morrison, Davis, King, and Bicknell), and Cell Biology and Physiology and the Cancer Center (Drs Maki and Bear and Mr Reinert), University of New Mexico Health Sciences Center, and the New Mexico VA Health Care System (Drs Davis and King), Albuquerque.

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