Highly Specialised Service For McArdle Disease and Related Disorders

Our service is part of the Centre for Neuromuscular Diseases based at the NHNN.

The centre brings together a large team of specialists (including consultants, nurses and therapists) with expertise in the diagnosis, management and research of all diseases affecting the muscles and nerves. The centre offers patient-centred care for all people living with neuromuscular diseases.

This is a highly specialised service which offers diagnosis and management for patients with McArdle Disease and other rare related muscle glycogen storage diseases and other causes of rhabdomyolysis.

The service is led by a consultant and is supported by a multidisciplinary team (MDT) comprising of a dietitian, physiotherapist, specialist nurse, exercise physiologist and neuropsychologist.

The aim of the service is to provide an diagnosis, information and appropriate management advice to patients with McArdle Disease and related disorders.

By visiting our services patients can benefit from the experience our team have gained through caring for people with rare disorders. The team understands the problems faced by people with these disorders.

We will aim to:

• Investigate your symptoms and obtain a diagnosis;
• Teach you techniques to manage your condition;
• Provide you with information about your condition
• Advise you about the best current management, particularly diet and exercise;
• Provide regular assessment and monitoring;
• Provide emotional and psychological support;
• Teach you how best to manage your condition;
• Provide you with information about what to do if you require emergency treatment;
• Tell you about current or upcoming research projects.

We will ask you to complete a walking assessment to look at your fitness this is performed under the close supervision of the exercise physiologist or physiotherapist or both.

All assessments are tailored to your individual level of function and are not difficult. Patients of all abilities are able to perform this test without any problem. For further information please see our walking assessment leaflet.

You will have a blood test as part of a general health check-up.

You will also meet with various members of the team. Everyone is given the time they need in each session. You may not need to see all the members of the team on your visit and you can request to see a particular member if you wish.

You should plan to attend the service for a whole day.

Consultant in Neuromuscular Diseases

• Medical assessment and diagnosis;
• Take details of your history;
• Find out about any current problems or needs;
• Give you information and advice on how best to manage your condition.

Neuropsychologist

• Quality of life assessment and psychological support.

Dietitians

• Measure weight, height and indicators of nutritional status;
• Carry out a detailed dietetic assessment;
• Offer individualised advice on dietary changes to support your condition and overall health;
• Collect dietary data of patients diagnosed with McArdle Disease to support future nutritional advice for your condition.

Exercise Physiologist and Physiotherapist

• Guide and develop exercise testing and training protocols and practice-based research;
• Measure walking ability and help people learn how to reach a second wind more efficiently.
• Exercise advice and assessment;
• Advice on avoiding injury;
• Muscle strength testing;
• Individual training sessions.

Clinical Nurse Specialist (CNS)

• Co-ordinates clinics and may make contact with you by telephone before your appointment;
• Telephone clinics for ongoing management and support between hospital visits
• Assistance with benefit applications
• Support for newly diagnosed patients
• Referral to other disciplines or agencies

• Give yourself plenty of time so that you don’t need to rush; you will need to allow at least five hours for your first MDT appointment.
• You will go to several different departments within the hospital to have your appointments. We will send you a map with your appointment letter. Contact us if you are unsure of where to go;
• Wear comfortable clothing and footwear;
• If you think you may be late, or need to cancel your appointment, please let us know by calling 020 3448 8132.

You should bring with you:

• A list of any medication that you take regularly;
• Contact details of any local therapy team or social services you have seen who may have been active in your care or treatment in recent times;
• A list of questions you wish to ask.

Please arrive on time for your appointment and check in with the receptionist. The final confirmation letter, from Yasmin Begum, will be sent eight weeks before your appointment detailing which department you need to go to.

If possible please let us know at least 72 hours in advance (or as soon as possible) if you cannot keep your appointment so we can offer it to someone else.

Your feedback is important to help us monitor and improve our service where necessary. Please complete a questionnaire or comment card to let us know about your experience.

If you receive benefits or tax credits you may be entitled to claim for your travel. Please bring proof of your benefits or tax credits entitlement with you.

Our Clinical Nurse Specialist will be able to advise you.

MRC Centre for Neuromuscular Disease

The National Hospital for Neurology and Neurosurgery

Queen Square

London

WC1N 3BG

Direct Tel: 020 3448 8132

Switchboard: 0845 155 5000 (There is no additional service charge for using a 0845 number. The cost is determined by your phone company’s access charge) or 020 3456 7890

Extension: 88132

Fax: 020 3448 3633

Email: enquiry.mcardle@uclh.nhs.uk

Website: www.cnmd.ac.uk/our_services

PALS (Patient Advice and Liaison Service)

PALS provide a personal contact point to assist patients, relatives and carers. If you have an issue relating to our service that you would like to discuss, you can contact PALS team by phone on 0203 448 3237 or email PALS@uclh.nhs.uk.

Association for Glycogen Storage Disease (UK)

McArdle Disease (GSD Type V) Co-ordinator

Email Address: type5@agsd.org.uk

Tel No: 0300 123 2795

Website: www.agsd.org.uk

UCL Hospitals cannot accept responsibility for information provided by external organisations.