UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

Matthews, E; Hartley, L; Sud, R; Hanna, MG; Muntoni, F; Munot, P; (2018) Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy. [Letter]. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2017-317849. Green open access

[thumbnail of Article]
Preview
Text (Article)
Matthews_ACZ response myopathy JNNP final revisions clean 23 4 2018.pdf - Accepted Version

Download (361kB) | Preview
[thumbnail of Supplementary information]
Preview
Image (Supplementary information)
Fig 1 ACZ response myopathy.jpg - Accepted Version

Download (74kB) | Preview

Abstract

Sarcolemmal voltage-gated sodium and calcium ion channels are essential for generating action potentials and excitation contraction coupling required for muscle contraction. Autosomal dominant sodium and calcium ion channel gene disorders cause episodic symptoms of periodic paralysis (PP) and myotonia.1 Acetazolamide treatment improves these symptoms.2 Recently, recessive congenital myopathies due to compound heterozygous or homozygous ion channel gene mutations have been described with fixed muscle weakness and disability.3 4 In case series we previously reported, two individuals with ion channel-related congenital myopathy had additional discrete episodic or fluctuant weakness causing added morbidity.3 4 Here, we delineate the long-term benefit of treatment with acetazolamide for these individuals and discuss the implications for genetic diagnosis and management of future cases.

Type: Article
Title: Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jnnp-2017-317849
Publisher version: http://doi.org/10.1136/jnnp-2017-317849
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: channels, clinical neurology, myopathy, paediatric
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10051640
Downloads since deposit
589Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item