Coming up:

 IGSD Conference,
The Netherlands,
15-17 June 2017.

 

 Walking with McArdle's course,
 North Wales,
 2-9 August 2017.

 

 AGSD-UK Annual Conference,
Nottingham,
28-29 October 2017.

 

About the UK McArdle Clinic and its aims

 

Introduction

The UK McArdle clinic is located in London having moved from Oswestry in April 2011. Clinics are currently held twice per month with approx. 8 or 9 people per clinic. Newly referred patients may be seen several times in the first year, but then people are typically seen once a year or even every two years. This can vary according to individual needs.



Staff of the clinic include

     Dr Ros Quinlivan, Consultant Neuromuscular Physician
     Dr Richard Godfrey, Exercise Physiologist
     Dr Jatin Pattni, Neuropsychologist
     Charlotte Ellerton, Dietician
     Neuromuscular Physiotherapist
     Clinical Nurse Specialist

In addition Andrew Wakelin, the AGSD-UK McArdle Disease Co-ordinator, or another representative of the AGSD-UK, visits many of the McArdle clinics on a voluntary basis. They provide information about the support available to McArdle people and help interested patients to meet each other in an informal atmosphere.



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. Diagnosis is confirmed by DNA analysis. Some patients referred to the clinic with a diagnosis from years past have been shown not to have the disorder. These patients have been re-diagnosed as having a Muscular Dystrophy, Congenital Myopathy or Chronic Fatigue Syndrome.

2. To provide regular assessment and monitoring.
This includes a 12 minute exercise assessment, ECG and respiratory monitoring at each clinic visit. Blood tests are taken for Creatine Kinase (CK), renal function and urate.

3. To provide dietary advice.
Regular weight monitoring and calculation of BMI are important. Individual dietary assessment and advice is provided by the dietician.

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

5. To educate patients about the condition.
Information and education are very important. Many patients are debilitated because of previous 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 psychological and emotional support.
Psychological support is provided by the pscychologist. Emotional support is achieved by enabling patients to meet one another. The clinical nurse specialist and AGSD-UK members help to facilitate this process.

7. To engage in research to improve treatment.
The clinic provides 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.
  • From 2014 a pilot trial of drug treatment is underway.

Updated: 25 October 2014