Queen Square Centre for Neuromuscular Diseases


Diagnosis and treatment

Our patients have a thorough and detailed history taken and clinical examination. This is a vital part of assessment and enables us to decide on the next best step in your management. This can include:

Muscle strength test
  • Blood tests-including creatine kinase, acid maltase blood spot, and metabolic tests.
  • Electrodiagnostics-including McManis protocol exercise EMG and nerve excitability studies
  • Muscle biopsy with genetic, histochemical, immunocytochemical and enzymatic analyses
  • Skin biopsy with fibroblast culture for metabolic disorders
  • Muscle MRI
  • Ischaemic/non-ischaemic lactate test
  • Genetic testing from blood and muscle samples where appropriate


Upon receiving your diagnosis, there are several pharmaceutical and non-pharmaceutical options for treatment:


Periodic paralysisDichlorphenamide and Acetazolamide
Mitochondrial diseaseUbiquinone


Treatment options include specialist neuromuscular orthotics and physiotherapy input.

We also offer patient social support through our Clinical Nurse Specialists.

They specialise in:

  • muscle channelopathies
  • neuromuscular respiratory failure
  • transition patients
  • myotonic dystrophy
  • facioscapulohumeral muscular dystrophy
  • mitochondrial disease

Immuno-suppression monitoring is also provided by a nurse specialist service.