Queen Square Centre for Neuromuscular Diseases


Diagnosis and treatment 

We offer a specialist diagnostic and advisory service for muscle channelopathies. 

This includes a combination of:

  • Detailed clinical assessment
  • Specialist neurophysiology (including short and long exercise testing)
  • MRI scanning of muscles and extensive genetic testing. 

A muscle biopsy is not routinely needed to make a diagnosis of muscle channelopathy but may be performed if required in difficult cases.

We have close links with specialist cardiologists at Bart's Health Care and refer to them if any detailed cardiac investigation or advice is required. 


There are a number of treatments available although these drugs are not always readily available from general practitioners or other hospital physicians. 

We can supply the following: 

Drug type Drug nameEffect 
Sodium channel blockersMexiletine and CarbamazepineMyotonic disorders - significantly improve symptoms of stiffness 
Potassium wasting/sparingBendroflumethiazide, Spirinolactone, AmiloridePeriodic paralyses/ATS - reduce the number of paralytic attacks
Carbonic anhydrase inhibitorsAcetazolamideCan reduce the number of paralysis episodes


Dichlorphenamide is not currently available in the UK but we are working with our Industry Partners to obtain a supply as soon as possible.

Patient information day

We run a yearly patient-centred 'Channelopathy Day' which includes talks from the Channel Team and informal question and answer sessions. 

It is designed to provide more information to patients and carers including treatment options and practical considerations e.g. driving advice. 

We recognise not all patients can travel to London for review and we are also happy to offer an advisory service via letter or email to other specialists who may be looking after muscle channel patients.

Please click on the links below to view presentations from the most recent channelopathy day held in November 2019: