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At hospital with McArdle’s

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TO You may occasionally get something wrong and hurt yourself This will normally be due to physical activity Refer to this leaflet or your emergency card n Rest and have water to drink n Ask a relative friend to help assess situation Go to hospital if any of the following apply you n Have a severe cramp or contracture or n Have severe muscle pain or n Have cola colored urine or n Have significantly reduced urine output or n Feel very unwell flu like aches and fever or n All the above are OK and yet you have a CK result many times your baseline level If possible take a urine sample with you to show on arrival If you hold a personalized emergency letter take that also On arrival at the hospital n Immediately book in at emergency registration n Explain that you are suffering from rhabdomyolysis and show your urine sample n Show this leaflet and emergency letter if held n Point out the red panel 1 inside on left With the emergency doctor n Provide a copy of this leaflet n Be ready to answer questions about McArdle s n Point out references and IamGSD web site n Expect to be put on intravenous IV fluids Rehabilitation n Following discharge you are likely to still need to rest for at least several days n Gradually rebuilding aerobic capacity of the damaged muscles may take some weeks At hospital References with McArdle s CLINICAL PRACTICE GUIDELINES 1 Clinical Practice Guidelines for glycogen storage disease V VII McArdle and Tarui from an international study group Neuromuscular Disorders 31 2021 1296 1310 https doi org 10 1016 j nmd 2021 10 006 2 Emergencies section 6 3 Rhabdomyolysis section 6 1 4 Acute Renal Failure section 6 2 5 Compartment Syndrome section 6 3 6 Laboratory testing section 5 3 Information for emergency visits When to seek urgent medical attention Guidance for assessment and management References to Clinical Practice Guidelines 1 Triage needed Visit the following page to download free PDFs of the 15 page paper plus 18 pages of Supplementary Material n Patient is likely to report with severe muscle cramping or contracture s and extreme pain 2 n May develop rhabdomyolysis 3 myoglobinuria and a risk of Acute Renal Failure 4 with severe episodes requiring dialysis n Risk of Compartment Syndrome 5 requiring urgent surgical intervention to relieve pressure www iamgsd org cpg Further information A range of publications is available on our website Browse on line or download free PDFs such as Medical overview A quick guide for medical professionals 20 pages 101 Tips for a good life Simple practical tips for people living with McArdle s 164 pages McArdle Dise medical over ase view Information to support decisio ns in primary specialisms and care emergency care this very rare metabo for people living with lic myopathy One page overview 1 Introd uction What is McArdl e Disease McArdle s specialis ed service Genetic confirm ation Inheritance Concomitant conditio ns 2 3 4 4 5 Rhabdomyolysis Cramps and contract ures Pain medication Medical emergen cies Creatine Kinase Urate Liver enzymes 8 9 9 Exercise and diet Problems with activity Beneficial exercise Physiotherapy Diet Statin therapy Drug side effects General anaesthe tic Tourniquets Examinations Suppo n McArdle disease Glycogen Storage Disease 5 is an ultra rare genetic metabolic myopathy n Myophosphorylase is deficient so glucose cannot be released from muscle glycogen n A severe energy crisis arises early in all physical activity and throughout isometric and anaerobic activity n If patient is well managed urgent medical care is rarely needed However patients can make mistakes or be caught out by circumstances 10 11 12 13 Alerts rt Information Cards Further reading publications Support groups Introducing McArdle Disease 6 6 7 Lab results 14 14 15 15 15 16 16 17 Back cover DISCLAIMER IamGSD uses its best endeavors to provide accurate factual and up to date information on this ultra rare condition However each person must take into account their own circumstances diagnosis and any additional genetic and medical factors and is advised to consult with their doctor before making use of our generic information and guidance Please refer to the disclaimer on the Medical menu of our website www iamgsd org v1 05 2022 PA TI EN When to seek T medical attention

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TO Urgent assessment 1 DO CT OR Following activity patients may present with n Muscle cramps or extreme fixed contractures with swelling and severe pain n Myoglobinuria oliguria or anuria or feeling very unwell flu like aches and fever Do not be concerned about the McArdle disease itself but consider rhabdomyolysis and ASSESS FOR ACUTE RENAL FAILURE 3 n Urine analysis for myoglobinuria n Full chemistry panel Creatine Kinase CK or CPK see right glucose calcium and bone profile urea and electrolytes 2 Suggested management n IV fluid bolus then saline at 2x maintenance and unless diabetic consider if 10 dextrose needed to keep blood glucose 3 5 mmol L 61 mg dL n Monitor urine output CK and electrolyte status n Consider possible complications of Acute Renal Failure and Compartment Syndrome see right n It is essential to adequately treat pain no contra indication for intramuscular injections Possible complications There are two main risks of serious complications as for any episode of rhabdomyolysis both are rare ACUTE RENAL FAILURE ARF 4 a Renal dysfunction is predominantly related to myoglobin direct tubular cytotoxicity vasoconstriction and tubular obstruction b Severe rhabdomyolysis should be treated with adequate fluid administration to prevent renal impairment or patient should be put on dialysis if warranted c Take into account the fluid balance to avoid further complications such as hypervolemia and acute pulmonary edema d For patients that develop ARF consultation with nephrology is required COMPARTMENT SYNDROME CS 5 a Swelling associated with muscles which are in contracture can lead to Compartment Syndrome b Assess for Compartment Syndrome including checking the pressure within the fascia surrounding the affected muscles c Consider the need for surgical intervention and if necessary make urgent referral Guidelines for discharge 3 Each patient must be assessed individually but the following are suggested guidelines n Renal function lab results are normal n Urine volume is fully adequate n Patient does not feel unwell or nauseous and is tolerant of oral fluids n CK has trended down for 3 consecutive tests at intervals of approx 12 to 24 hours If all above points are compliant discharge may be considered with CK many times patient s baseline A note on Creatine Kinase a The patient may attend due to an unusually high plasma Creatine Kinase CK CPK level reported in primary care following a McArdle injury b Baseline levels can be approx 2 000 5 000 IU L 6 and can vary significantly with activity labs typically quote normal values

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