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Tarui Disease (GSD7)

Diagnosis & Management

It can take many years to achieve a diagnosis, but it is getting better with genetic testing, and now there is a national clinic to provide support.

Specialist clinic for GSD7

Everyone in the UK with a diagnosis of GSD7 can be referred to this specialist service at the MRC Centre for Neuromuscular Diseases, part of the National Hospital for Neurology and Neurosurgery in Queen Square, London WC1. Dr Ros Quinlivan is the lead clinician.

This service is provided within the nationally commissioned service for McArdle Disease (GSD5) and related conditions. It is an invaluable resource for the patient community and is a centre of excellence with over 200 patients. Only a small number have GSD7 and the clinic tries to see all those on an annual GSD7 clinic day, so that they have an opportunity to meet each other if they so wish.

There is significant benefit for patients (and their families) in getting together at these clinics. But perhaps even more importantly the clinic approach enables patients to be seen by a range of professionals in one visit. The clinic includes neuromuscular consultant, physiotherapist, exercise physiologist, specialist nurse, dietician and psychologist.

By concentrating patients at one specialist centre the professionals concerned build their understanding of the disease through seeing as many patients as possible. Having a group of patients also enables the possibility of future research projects and clinical trials.
The AGSD-UK encourages everyone in the UK with a diagnosis of GSD7 to ask their general practitioner to refer them to this specialist clinic.

Contact and referral details

Secretary to Dr Ros Quinlivan
MRC Centre for Neuromuscular Diseases
National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG

Direct line: 020 3448 8132
Switchboard: 0845 155 5000 ext. 88132
Email: enquiry.mcardle@uclh.nhs.uk

GPs referring a diagnosed patient:
for assessment, advice, management and support, send a referral letter to the above.

Professionals referring for diagnosis:
Please visit the clinic’s web site and download the pre-referral form: McArdle Disease Service.

Go to the web site and follow the button “Make a referral”.