title: Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.
abstract: Six years before the present study we performed a retrospective study of 114 subjects presenting with asymptomatic / oligosymptomatic hyperckemia (raised creatine kinase blood levels), a diagnosis being made in 21 of them. We now present the results of a long-term follow-up in 55 of the still undiagnosed 93 individuals. Most of them have remained asymptomatic and did not develop specific neuromuscular disorders. One subject became frankly symptomatic manifesting limb-girdle weakness. A diagnosis of dystrophinopathy carrier and one of possible type I SMA carrier were indirectly made in another two subjects. Almost all subjects still have hyperckemia, though the mean creatine kinase (CK) value is lower than before. CK levels have become normal in 12 subjects. Two died of neoplasia, and six developed non-neuromuscular disorders. We noted no follow-up differences in terms of CK modifications between subjects with pathological EMG and/or muscle biopsy findings and those with normal findings at first examination.
authors.affiliation: Centro Dino Ferrari, Istituto di Clinica Neurologica, Ospedale Maggiore, IRCCS, via F Sforza 35, 20122, Milano, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: D'Adda
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.forename: Maria Elisa
authors.initials: ME
authors.lastname: Fruguglietti
authors.forename: Veronica
authors.initials: V
authors.lastname: Crugnola
authors.forename: Valeria
authors.initials: V
authors.lastname: Lucchini
authors.forename: Filippo
authors.initials: F
authors.lastname: Martinelli-Boneschi
authors.forename: Chiara
authors.initials: C
authors.lastname: Zecca
authors.forename: Costanza
authors.initials: C
authors.lastname: Lamperti
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Alessandro
authors.initials: A
authors.lastname: Prelle
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood*; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009468:Neuromuscular Diseases / Q000097:blood / Q000453:epidemiology*; D011379:Prognosis
chemical_list: D003402:Creatine Kinase