About the UK McArdle Clinic and its aims

Introduction

The UK McArdle clinic is located in London with effect from April 2011. (It was established in 1996 at the Robert Jones and Agnes Hunt Hospital in Oswestry.) Clinics are currently held once a month, but because of increasing demand the frequency is to be increased to almost weekly.

Staff of the clinic include

     Dr Ros Quinlivan, Consultant Neuromuscular Physician
     Dr John Buckley, Exercise Physiologist
     Dr Richard Godfrey, Exercise Physiologist
     Dr Jattin Patni, Neuropsychologist
     Heidi Chan, Dietician
     Neuromuscular Physiotherapist - to be appointed
     Clinical Nurse Specialist - to be appointed

In addition, a member of the AGSD-UK visits most of the McArdle clinics on a voluntary basis, to help interested patients to meet each other in an informal atmosphere and to provide information about the support for patients.

Aims of the clinic

1. To provide an accurate diagnosis.
This is extremely important from the point of view of treatment and genetic counselling for patients and their families. To date, approximately 25% of those patients referred to the clinic with a diagnosis of McArdle disease have been shown not to have the disorder. These patients have been re-diagnosed as having Muscular Dystrophy, Congenital Myopathy and Chronic Fatigue Syndrome.

2. To provide regular assessment and monitoring of the condition.
This includes a 12 minute exercise assessment, ECG and respiratory monitoring at each clinic visit. Blood tests are taken for CK, renal function and urate. Urine is screened for myoglobin.

3. Regular weight monitoring and calculation of BMI are important.
Dietary advice, including an assessment of protein intake, is provided by the dietician.

4. Rehabilitation advice and referral to local community resources, where needed.
Simple household tasks may be quite difficult for some individuals

5. Information and education are very important.
Many patients are debilitated because of previously administered inappropriate advice, such as avoidance of all exercise. The most appropriate management for this disorder is regular gentle aerobic exercise. Furthermore, because this is a rare condition, other symptoms may be falsely attributed to the McArdle disease.

6. To provide emotional support for patients.
This is achieved by the clinic in enabling patients to meet one another. The clinical nurse specialist, family care officer and AGSD (UK) members help to facilitate this process.

7. To provide a partnership with patients to advance medical knowledge and understanding of the condition and to undertake research into the condition.
Since the clinic was established the following research has been undertaken or papers published:

• Randomised double blind cross-over trial of vitamin B6 supplementation in McArdle disease.
• Assessment of McArdle disease using a 12 minute shuttle test incorporating ratings of perceived pain.
• Analysis of Urine from McArdle patients for organic amines, utilising an advanced olfactory sensor.
• Brain MRS studies in McArdle disease.
• Clinical trial of Creatine supplementation.
• A natural history study of the first 45 confirmed diagnosis patients at the clinic.
• Studies into mental processing in McArdle Disease.

Updated: 15 October 2011