Why the study?
Does acetazolamide improve symptoms and signs in individuals with ion channel-related congenital myopathy?
Population
Two individuals with ion channel-related congenital myopathy who had additional discrete episodic or…
Design
Case_series
Follow-up
long-term
Authors
Loading...
Acetazolamide may improve symptoms in recessive ion channel myopathies; leaves open generalizability beyond this single case.
Does acetazolamide improve symptoms and signs in individuals with ion channel-related congenital myopathy?
Acetazolamide may provide long-term symptomatic benefit for patients with ion channel-related congenital myopathy experiencing episodic weakness.
Matthews et al. (2018) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: