Familial inclusion body myositis

Evidence for autosomal dominant inheritance

Neville, H. E. MD
Baumbach, L. L. PhD
Ringel, S. P. MD
Russo, L. S. Jr. MD
Sujansky, E. MD
Garcia, C. A. MD

Department of Neurology, the University of Colorado School of Medicine, Denver, CO (Drs. Neville and Ringel)
Neurology Service, the Denver Veterans Affairs Medical Center, Denver, CO (Dr. Neville)
Department of Pediatrics, Division of Genetics, the University of Miami School of Medicine, Miami, FL (Dr. Baumbach)
Department of Neurology, the University of Florida Health Sciences Center, Jacksonville, FL (Dr. Russo)
Department of Pediatrics, University of Colorado School of Medicine, Denver, CO (Dr. Sujansky)
Departments of Neurology and Pathology, Louisiana State University Medical Center, New Orleans, LA (Dr. Garcia).

Address correspondence and reprint requests to Dr. Hans E. Neville, Department of Neurology, B185, UCHSC 4200 East 9th Avenue, Denver, CO 80262.

Presented in part at the 42nd annual meeting of the American Academy of Neurology, April 1990, Miami Beach, FL, and the annual meeting of the American Society of Human Genetics, October 1990, Cincinnati, OH.

Lisa L. Baumbach was supported by a special fellowship from the Muscular Dystrophy Association of America. The Muscular Dystrophy Association of America through their support of clinics provided sites for patient examinations in Amarillo, Denver, Jacksonville, Lafayette, and Phoenix.

Received July 26, 1991. Accepted for publication in final form September 27, 1991.

Neurology 42(4):p 897-902, April 1992.

Abstract Abstract

We report a kindred manifesting clinical features and muscle biopsy findings of inclusion body myositis (IBM). In this family, multiple members were affected in two generations with direct male-to-male and female-to-male transmission. This is the first reported instance of autosomal dominant inheritance in IBM, which usually occurs sporadically or, rarely, may be transmitted as an autosomal recessive disorder.