Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Noemi VerebFederica MontagneseDieter GläserBenedikt Schoser

Published in: Journal of neurology (2020)

This study highlights the relevant clinical overlap between NDM-CLCN1 and NDM-SCN4A patients and warrants the use of early and broad genetic investigation for the precise identification of the NDM subtype. Besides the clinical and genetic heterogeneity, the limited response to current anti-myotonic drugs constitutes a continuing challenge.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
prognostic factors
klebsiella pneumoniae
genome wide
patient reported outcomes
multidrug resistant
patient reported
muscular dystrophy