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Patients may appear healthy but activity results in premature fatigue, exaggerated heart rate, pain and muscle spasm.Cases of muscle breakdown (rhabdomyolysis) can lead to compartment syndrome or life-threatening acute kidney injury.McArdle Disease (GSD5)A rare genetic disorder of muscle metabolism
n If aer strenuous or other unusual activity/exercise† you have any one or more of the following signs:Feeling very unwell aer activity - perhaps with u-like symptoms, can be a sign of rhabdomyolysis (muscle breakdown).Low volume of urine - Producing a very low volume, or no urine at all, constitutes a medical emergency (unless simply caused by dehydration) as the complications can become life threatening.Dark coloured urine - Called myoglobinuria or proteinuria, appears as reddish tea to cola coloured urine. Many factors can aect this including hydration (paler) and strongly coloured food such as beets (darker).Guidance in event of rhabdomyolysis
Tingling, numbness, extreme swelling, discoloured skin – may indicate compartment syndrome.†A few people have had these symptoms without signicant activity. n You should: Drink plenty of water to help ush your kidneys. Go to hospital promptly for medical assessment. Take a urine sample with you, if possible.If in doubt, contact your McArdle’s doctor or specialist nurse.TO THE EMERGENCY DOCTOR For treatment guidelines: www.iamgsd.org then follow Medical Emergencies.McArdle’s consultant:Telephone:For McArdle physicians by country: www.iamgsd.org follow ‘Useful info’
People with McArdle Disease may require assistance with: A place to sit down for 10 minutes rest. Use of a wheelchair (e.g. at airports) In the event of a rhabdomyolysis crisis, to be taken to hospital.McArdle Disease, also known as Glycogen Storage Disease Type5 (GSD5), is an inherited condition which results in deciency of an enzyme (myophosphorylase) in muscle cells. is is needed to convert glycogen (fuel stored in the muscle) into energy. e result is a serious energy decit during the rst 10 minutes of any activity, and throughout all intense activity.anks for your helpwww.iamgsd.org