AGSD-UK Conference 2010

The Conference will be in central London on weekend of 20th-21st November. More details soon.

 

Walk over Wales... every step counts
2 July to 2 August 2010
Sponsored walk raising money for AGSD-UK. 210 miles. Details.

 

Walking with McArdle's - Wales
An opportunity to enjoy a week's walking holiday in Snowdonia and learn how best to cope with McArdle's. July 2011. Details.

 

 


 

AGSD-UK Conference 2010

The Conference will be in central London on weekend of 20th-21st November. More details soon.

 

Walk over Wales... every step counts
2 July to 2 August 2010
Sponsored walk raising money for AGSD-UK. 210 miles. Details.

 

Walking with McArdle's - Wales
An opportunity to enjoy a week's walking holiday in Snowdonia and learn how best to cope with McArdle's. July 2011. Details.

 

 

About the McArdle Clinic and its aims

Until Autumn 2010: Robert Jones and Agnes Hunt Orthopaedic & District Hospital,
Oswestry, Shropshire SY10 7AG
http://www.rjah.nhs.uk

 



Introduction

The McArdle clinic was established in 1996, as a satellite of our neuromuscular service. Initially, clinics were held every six months, but because of increasing demand, over the years the frequency has been increased to 4 times per year. We are fortunate in the considerable support we receive from the Association for Glycogen Storage Disease.



Staff of the clinic include

     Dr Ros Quinlivan, Consultant Paediatrician and Neuromuscular Physician
     Dr Deborah Short, Consultant in Rehabilitation
     Neuromuscular Physiotherapist
     Carolyn Evans, Clinical Nurse Specialist
     Jane Morris, Healthcare Assistant
     Tony Twist, Dietician
     Anthony Garry, Family Care Officer, Muscular Dystrophy Campaign
     Dr John Buckley, Exercise Physiologist

In addition, one or more members of the AGSD (UK) visits most of the McArdle clinics on a voluntary basis, to provide information about the Association, offer refreshment and to help interested families 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. 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:

  • 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.

About the McArdle Clinic and its aims

Until Autumn 2010: Robert Jones and Agnes Hunt Orthopaedic & District Hospital,
Oswestry, Shropshire SY10 7AG
http://www.rjah.nhs.uk

 



Introduction

The McArdle clinic was established in 1996, as a satellite of our neuromuscular service. Initially, clinics were held every six months, but because of increasing demand, over the years the frequency has been increased to 4 times per year. We are fortunate in the considerable support we receive from the Association for Glycogen Storage Disease.



Staff of the clinic include

     Dr Ros Quinlivan, Consultant Paediatrician and Neuromuscular Physician
     Dr Deborah Short, Consultant in Rehabilitation
     Neuromuscular Physiotherapist
     Carolyn Evans, Clinical Nurse Specialist
     Jane Morris, Healthcare Assistant
     Tony Twist, Dietician
     Anthony Garry, Family Care Officer, Muscular Dystrophy Campaign
     Dr John Buckley, Exercise Physiologist

In addition, one or more members of the AGSD (UK) visits most of the McArdle clinics on a voluntary basis, to provide information about the Association, offer refreshment and to help interested families 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. 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:

  • 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.