title: Forearm P-31 nuclear magnetic resonance spectroscopy studies in oculopharyngeal muscular dystrophy.
abstract: Five siblings with autosomal dominant oculopharyngeal muscular dystrophy (OPMD) underwent P-31 Nuclear Magnetic Resonance Spectroscopy studies of forearm flexor muscles. Mean values of PCr/(PCr+Pi) in the patients were reduced (p = 0.01) and pH elevated (p = 0.02) in resting muscle when compared to controls. During exercise PCr/PCr+Pi) fell quickly to values less than controls (p less than 0.0001) despite submaximal exercise output and developed exercise-induced acidosis which exceeded that of controls (p = 0.05). Acidosis recovered slowly despite relatively normal recovery of PCr/(PCr+Pi) following exercise. Within the patient group, however, one member had normal resting, exercise and recovery values. The studies suggest that OPMD is a more widespread disorder of striated muscle than clinically appreciated. The pattern of findings observed in OPMD differs from those identified in denervation, disuse and mitochondrial myopathy.
authors.affiliation: Department of Medicine, Queen's University, Kingston, Ontario, Canada.
authors.forename: D W
authors.initials: DW
authors.lastname: Zochodne
authors.forename: W J
authors.initials: WJ
authors.lastname: Koopman
authors.forename: N J
authors.initials: NJ
authors.lastname: Witt
authors.forename: T
authors.initials: T
authors.lastname: Thompson
authors.forename: A A
authors.initials: AA
authors.lastname: Driedger
authors.forename: D
authors.initials: D
authors.lastname: Gravelle
authors.forename: C F
authors.initials: CF
authors.lastname: Bolton
mesh_terms: D000140:Acidosis, Lactic / Q000378:metabolism; D000368:Aged; D005080:Exercise Test; D005260:Female; D005542:Forearm / Q000502:physiology*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000378:metabolism*; D009801:Oculomotor Muscles / Q000378:metabolism*; D010609:Pharyngeal Muscles / Q000378:metabolism*; D010725:Phosphocreatine / Q000378:metabolism
chemical_list: D010725:Phosphocreatine