Blar i forfatter "Ørstavik, Kristin"

Viser treff 1-3 av 3

    • Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020) 

      Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-11-25)
      We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, the highest reported figure worldwide. Of the 153 subjects, 134 (88 %) were homozygous for FKRP c.826C>A giving a carrier frequency for this variant of 1/101 in Norway. Clinical ...

    • Pain in adult myotonic dystrophy type 1: relation to function and gender 

      Solbakken, Gro; Løseth, Sissel; Froholdt, Anne; Eikeland, Torunn D.; Nærland, Terje; Frich, Jan C.; Dietrichs, Espen; Ørstavik, Kristin (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-03-04)
      <i>Background</i> - Pain is prevalent in myotonic dystrophy 1 (DM1). This study investigated whether CTG repeat size, disease duration, BMI and motor and psychological function were related to pain in adult patients with DM1, and if there were gender differences regarding intensity and location of pain.<br><br> <i>Method</i> - Cross-sectional design. Pain was investigated in 50 genetically confirmed ...

    • Small and large fiber neuropathy in adults with Myotonic dystrophy type 1 

      Solbakken, Gro; Løseth, Sissel; Frich, Jan; Dietrichs, Espen; Ørstavik, Kristin (Journal article; Tidsskriftartikkel; Peer reviewed, 2024-03-05)
      Introduction: Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder that affects multiple organs. In this study, we investigated symptoms of pain and presence of small and large fiber neuropathy in the juvenile and adult form of DM1.<p> <p>Method: Twenty genetically verified DM1 patients were included. Pain was assessed, and neurological examination and investigations of ...