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Annals of Clinical & Laboratory Science 31:140-146 (2001)
© 2001 Association of Clinical Scientists

Proximal Myotonic Myopathy: Clinical, Neuropathologic, and Molecular Genetic Features

Stephan Eisenschenk1, William J. Triggs1, Gary S. Pearl2 and Amyn M. Rojiani3
1 Department of Neurology, University of Florida College of Medicine, Gainesville, Florida
2 Department of Pathology, Orlando Regional Medical Center, Orlando, Florida
3 Department of Pathology, University of South Florida College of Medicine, Tampa, Florida

Address correspondence to Amyn M. Rojiani, M.D., Ph.D., Department of Pathology (Neuropathology), University of South Florida College of Medicine, 12901 Bruce B. Downs Blvd. (MDC11), Tampa, FL 33612, USA; tel 813 974 8750; fax 813 974 5536; e-mail arojiani{at}com1.med.usf.edu

The primary genetic abnormality in myotonic dystrophy (DM) is an expansion of the CTG trinucleotide repeat on chromosome 19q. Recently, patients with similar clinical features, but without this genetic alteration, have been designated as proximal myotonic myopathy (PROMM). We describe two additional cases of PROMM, both of whom presented with clinical features suggestive of myotonic dystrophy. The patients had electromyographic (EMG) evidence of myotonia, normal cardiac evaluation, and no cataracts. Genetic analysis of peripheral blood leukocytes revealed no expansion of the trinucleotide repeat by polymerase chain reaction (PCR) and Southern blot analysis. Muscle biopsies in both cases were significant with features suggestive of myotonic dystrophy, such as large numbers of fibers containing multiple internal nuclei, occasional nuclear chains, and fiber atrophy, although sarcoplasmic masses and ring fibers were absent. These cases illustrate the clinical and neuropathologic findings of PROMM and underline the importance of correlating these aspects with genetic studies in patients with myotonic muscle disorders.

Keywords: proximal myotonic myopathy (PROMM), myotonic dystrophy (DM), trinucleotide repeats, polymerase chain reaction, Southern blot






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