Queen Square Centre for Neuromuscular Diseases


Diagnosis and treatment

Blood pressure test

We offer laboratory investigation for clinicians.

We offer lab result analysis and help with managing you condition.

We provide the following tests:

  1. Genetic testing for two common mutations in McArdle disease: R50x and G205s. This will diagnose up to 70% of patients with McArdle disease
  2. DNA sequencing for all rare glycogenolytic and glycolytic disorders
  3. Muscle biochemistry for glycolytic enzyme analysis

We provide assessment and management reviews for people with McArdle disease and related disorders with the multidisciplinary team (physician, physiotherapist, clinical nurse specialist, clinical psychologist, dietician, and sports and exercise physiologist).

We are the only service in the world offering a multi-disciplinary approach to management. Our team includes a physician, physiotherapist, clinical nurse specialist, clinical psychologist, dietician and sports and exercise physiologist.

What our team provides

  • Confirm your diagnosis
  • Teach you techniques to manage your disease, such as how to reach a 'second wind'
  • Provide you with information about the usual symptoms and variations of McArdle Disease and related disorders
  • Tell you about the best current management (diet and exercise)
  • Provide regular assessment and monitoring
  • Provide genetic counselling as appropriate
  • Provide emotional and psychological support
  • Teach you how best to avoid acute crises
  • Provide you with information about what to do if you require emergency treatment
  • Regular Management Clinics aimed at providing you with the best advice and support to help you manage your condition
  • Specialist exercise sessions for people with McArdle disease

What can I expect when I come for an appointment?

The multidisciplinary clinic appointments can take all day.


provides more information on what you can expect when visiting the clinic.

What is the exercise assessment?


involves a gentle 12 minute walking test which helps us to determine how well patients can recover from exercise (second wind phenomenon).

It is important to wear comfortable shoes.

You can also find some further advice in our