Queen Square Centre for Neuromuscular Diseases


Genotype - phenotype correlation and longitudinal studies (Non-dystrophic Myotonias)

This is a multi-centre, prospective, cross-sectional and longitudinal natural history study in NDM patients.

Sponsor University College London
Funder National Institutes of Health (NIH - USA)
CI Professor Michael Hanna
Sites London Queen Square
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Primary objective

To collect standardised data from NDM patients, to include:

  • clinical symptoms
  • exam findings
  • results of strength, functional, and electrophysiological testing

Genetic testing will allow identification of individual NDM subtypes. Appropriate endpoints will then be identified and used in studies of potential treatments.


20 patients were enrolled at the National Hospital for Neurology and Neurosurgery.