Hypokalemic periodic paralysis: a 3-year follow-up study.

Autor: Holm-Yildiz S; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark. Sonja.desiree.holm-yildiz@regionh.dk., Krag T; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Witting N; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Pedersen BS; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Dysgaard T; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Sloth L; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Pedersen J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Kjær R; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Kannuberg L; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Dahlqvist J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., de Stricker Borch J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Solheim T; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Fornander F; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Eisum AS; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology 8077, Rigshospitalet, University of Copenhagen, Inge Lehmanns Vej 8, 2100, Copenhagen, Denmark.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2023 Dec; Vol. 270 (12), pp. 6057-6063. Date of Electronic Publication: 2023 Sep 01.
DOI: 10.1007/s00415-023-11964-z
Abstrakt: Background and Objectives: Primary hypokalemic periodic paralysis (HypoPP) is an inherited channelopathy most commonly caused by mutations in CACNA1S. HypoPP can present with different phenotypes: periodic paralysis (PP), permanent muscle weakness (PW), and mixed weakness (MW) with both periodic and permanent weakness. Little is known about the natural history of HypoPP.
Methods: In this 3-year follow-up study, we used the MRC scale for manual muscle strength testing and whole-body muscle MRI (Mercuri score) to assess disease progression in individuals with HypoPP-causing mutations in CACNA1S.
Results: We included 25 men (mean age 43 years, range 18-76 years) and 12 women (mean age 42 years, range 18-76 years). Two participants were asymptomatic, 21 had PP, 12 MW, and two PW. The median number of months between baseline and follow-up was 42 (range 26-52). Muscle strength declined in 11 patients during follow-up. Four of the patients with a decline in muscle strength had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis. Fat replacement of muscles increased in 27 patients during follow-up. Eight of the patients with increased fat replacement had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis.
Discussion: The study demonstrates that HypoPP can be a progressive myopathy in both patients with and without attacks of paralysis.
(© 2023. The Author(s).)
Databáze: MEDLINE
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