Hereditary inclusion‐body myopathy associated with cardiomyopathy: Report of two siblings

• Published in: Muscle & nerve Vol. 43; no. 1; pp. 133 - 136
• Main Authors: Chai, Yaohui, Bertorini, Tulio E., McGrew, Frank A.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-01-2011; Wiley; Wiley Subscription Services, Inc
• Subjects: Adult; association; Biological and medical sciences; Cardiomyopathies - diagnostic imaging; Cardiomyopathies - genetics; Cardiomyopathies - physiopathology; Cardiomyopathy; Diseases of striated muscles. Neuromuscular diseases; distal myopathy with rimmed vacuoles; Dyspnea - genetics; echocardiogram; exertional dyspnea; Female; Fundamental and applied biological sciences. Psychology; Genetic Predisposition to Disease - genetics; hereditary inclusion‐body myopathy; Humans; Male; Medical sciences; Multienzyme Complexes - genetics; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Myositis, Inclusion Body - complications; Myositis, Inclusion Body - congenital; Myositis, Inclusion Body - genetics; Myositis, Inclusion Body - physiopathology; Neurology; Siblings; Striated muscle. Tendons; Ultrasonography; Vertebrates: osteoarticular system, musculoskeletal system; Human; Preservation; distal myopathy with rimmed vacuoles; Respiratory disease; Cardiomyopathy; Lower limb; Cardiovascular disease; association; Hereditary; Striated muscle; Vacuole; Myocardial disease; Dyspnea; exertional dyspnea; Heart disease; echocardiogram; Quadriceps muscle; Inclusion body; hereditary inclusion-body myopathy; Myopathy
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.21839

Hereditary inclusion‐body myopathy (HIBM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive disorder characterized by preferential involvement of distal muscles in the lower extremities, especially the anterior compartment of the legs, with relative preservation of the quadriceps.This is referred to as quadriceps‐sparing myopathy. Previous reports have revealed exclusive involvement in skeletal muscles. Herein we describe two siblings with typical HIBM/DMRV. The patients developed exertional dyspnea 20–26 years after disease onset. Echocardiogram revealed a cardiomyopathy in both patients. This is the first report of the association between HIBM/DMRV and cardiomyopathy. Muscle Nerve, 2011