MANAGING MUSCLE GSDs
As ultra rare conditions, muscle GSDs would ideally be managed by a specialist. However, this support is rarely available and thus general practitioners are relied upon and need to be well briefed. This page has three types of support for long term management and achieving an optimal state.
The information here has been prepared in regard to McArdle disease (GSD5), but is likely to have wide application to the other muscle GSDs which IamGSD covers.
CONTINUUM OF CARE
A Continuum of Care model has been developed by a team of expert clinicians and patient advocates as a practical tool for clinicians and McArdle patients.
It identifies areas of learning for patients to achieve an optimal state. The model outlines five pivotal steps (diagnosis; understanding; acceptance; learning and exercise) to assist clinicians to determine patient-specific learning needs. This model serves as a translational tool to help optimize care for these patients.
The Continuum of Care paper is available from the Neuromuscular Disorders journal, with open access. Click the button and read on-line, or then click on the button “View PDF” at the top of that page. You may save the PDF locally.
CLINICAL PRACTICE GUIDELINES
The “Clinical Practice Guidelines” (CPGs), have been agreed by an international study group and published in a leading journal. They cover GSD5 and GSD7 and are available with open access. See in particular Section 7 on General Medical Care.
You may access these guidelines online, or download a PDF free of charge from our CPGs page.
This booklet is intended for doctors in primary care and specialists in other areas who are seeing someone who has McArdle’s. It addresses subjects such as Creatine Kinase (CK / CPK) blood tests and what they mean in the context of McArdle’s. There are sections on other lab results, alerts for dangers, and a section on emergencies. All patients should give one to their primary care doctor and hold one themselves to have available on any other medical appointments.
FOR EXAMPLE, ARE YOU...
Concerned about baseline levels of Creatine Kinase (CK or CPK) ?
Needing to know the inheritance pattern, to counsel a patient?
Not clear what constitutes an emergency in McArdle disease?
Want information on what is safe for physiotherapy?
Unsure of the risks of medications, general anaesthetic or tourniquets?
All the answers, and a lot more besides, are in this 20 page briefing.
Originated by AGSD-UK, this booklet is now published by IamGSD. It has been produced by Euromac in French, German, Greek, Italian, Spanish, Catalan and Turkish. You can download PDFs of these languages.