title: Hyaline body myopathy: adulthood manifestations.
abstract: BACKGROUND
  Hyaline body myopathy (HBM) is a rare chronic nonprogressive congenital myopathy, with variable patterns of inheritance.
  
  
  METHODS
  We describe a patient with congenital HBM with progression of weakness and increasing muscle pain in adulthood. Three muscle biopsies, done at various times in her life, are reported.
  
  
  RESULTS
  Symptoms started during childhood; however, as an adult, following a period of stability with no progression of the disease, the patient became symptomatic with worsening proximal limb weakness, severe aching pain and hypertrophy of calves. Moderate elevations of serum creatine kinase and myopathic features were noted on electrophysiologic testing. Muscle pathology showed significant fatty infiltration of skeletal muscle and increased number of fibers with internal nuclei. Histology demonstrated the presence of subsarcolemmal, well-delineated hyaline areas, which on histochemical studies was shown to be limited to typel fibers. The hyaline bodies were dark with pH 4.2 ATPase and with immunohistochemical studies reacted only with myosin heavy chain slow. Electron microscopy showed the hyaline bodies to be composed of nonmembrane bound, fairly even sized granular material, which merged with the adjacent myofibrils. Earlier muscle biopsies, done during childhood, also revealed presence of similar subsarcolemmal hyaline deposits.
  
  
  CONCLUSIONS
  There appears to be a pattern of presentation with adulthood progression in HBM, which has not been described before. Further case studies are required to understand the clinical progression in HBM.
authors: Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors: Mubeen F
authors: MF
authors: Rafay
authors: William
authors: W
authors: Halliday
authors: Vera
authors: V
authors: Bril
mesh_terms: D000367:Age Factors; D018450:Disease Progression; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000473:pathology* / Q000503:physiopathology*; D010146:Pain / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D012508:Sarcolemma / Q000473:pathology / Q000648:ultrastructure