Tubular aggregates. Their association with neuromuscular diseases, including the syndrome of myalgias/cramps.
Tubular aggregates of muscle are distinctive structures seen in a wide variety of disorders. We reviewed 1,500 consecutive muscle biopsy specimens for the presence of tubular aggregates. Fifteen biopsy specimens (1.0%) were found with this abnormality. All patients were male, and seven had specific diagnoses based on clinical, biochemical, morphologic, and electrophysiologic criteria: hypokalemic periodic paralysis (two patients); hyperkalemic periodic paralysis (one patient); myotonia congenita (one patient); inflammatory myopathies (three patients). The remaining eight patients had a syndrome characterized predominantly by muscle pain and/or cramps, not necessarily precipitated by exercise. Although tubular aggregates constituted the predominant abnormality on muscle biopsy specimens in these cases, other mild, nonspecific changes were noted.
D000328:Adult; D000368:Aged; D006801:Humans; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology; D009468:Neuromuscular Diseases / Q000473:pathology*; D010146:Pain / Q000473:pathology; D010243:Paralysis / Q000473:pathology; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure*; D013577:Syndrome