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Queen Square Centre for Neuromuscular Diseases

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A study of Qualitative Magnetic Resonance Imaging (MRI) in Channelopathies

Sponsor / Funder UCL
CI Professor Michael Hanna
Sites London Queen Square
Contact details matthew.evans@ucl.ac.uk

Background

The skeletal muscle channelopathies are a diverse group of diseases caused by mutations in muscle ion channels. They can be divided into the non-dystrophic myotonias and periodic paralyses (PP).

Study information

This is a retrospective study comparing patients with genetically diagnosed PP to healthy volunteers.

Primary objective

To define the presence, frequency and pattern of MRI abnormalities in the legs of PP patients.

Secondary objective

To describe differences in MRI abnormalities in a subset of PP patients.

Recruitment

Approximately 40 patients with genetically confirmed PP.

For blinded analysis, 12 healthy volunteers will undergo standard lower limb MRI. In addition the MRI scans from 12 healthy volunteers from a previous research study will be used.