I’m a 42 year old male athlete who has suffered with bi-lateral lower leg and upper arm ache/heaviness for over 20 years. Symptoms first noticed in 1995 (21 years old) – felt in both lower legs with sudden onset whilst running. I have suffered from the condition every day since. Thankfully the ache reached peak intensity in 1997 when even just standing up was excruciating. I couldn’t run and walking was more like a slow shuffle. Legs felt like lead weights. Same symptoms presented in upper arms in 2000, again with sudden onset. The ache is still present in lower legs and arms but does vary in its intensity. Walking is tolerable but running is impacted. Some days are worse than others but every time I run I endure the symptoms. For the first few minutes the running is OK but gradually the muscles in the legs become weary and if I was to continue for over 20 minutes my running is reduced to a very slow shuffle. As soon as I stop running, the weariness fades very rapidly. But resumption of running beings back the symptoms immediately. I still attempt to run competitively but am limited to a distance of 5km and even then the last 2km is run in great discomfort.
• Feels like I am running in treacle or waist high water at worst. It’s never pain but an incredibly exhausting/burning sensation like the lower legs are about to burst. Once I stop the leg ache immediately fades almost to nothing.
• Legs ache a lot more in hot weather and conversely better in the Winter
• Upper arms also fatigue on weight-bearing activity or used vigorously. For example I can do 15 press-ups but beyond that incredibly hard work to continue. Just doing a single press-up can be excruciating beyond a certain point. When sprinting, pumping the arms also brings on the ache.
• Legs and body ache when standing in hot shower/sitting in hot bath
• I find running barefooted easier and quicker
• Instant and intense leg ache upon any intense effort e.g. running up a single flight of stairs, running on soft ground. Fades immediately upon cessation of effort
• Legs even feel weary when seated in the office in hot weather
• Symptoms developed in both upper arms whilst swimming. Again, it happened suddenly. I can swim OK in cold water but in a heated pool I can barely manage a few lengths before my arms become heavy
• Can’t explain it but speaking feels like hard work and quickly fatigues. Voice becomes hoarse, weak. Usually worse in the morning but any sustained talking and my voice quickly tires. Even when not talking, throat feels like it’s being squeezed.
• No numbness, tingling, pins and needles
• Left arm feels numb when running
• No skin rashes
• Viruses make symptoms worse
• Low Carb diet also worsened symptoms considerably
• Iron supplement had short term benefit
Tests:
• Lower leg CT/MRI scans and repeat MRI lower Limbs in 2016
• Bilateral lower legs fasciotomy (2000)
• Orthotics
• Muscle Biopsy showed ‘marked reduction in muscle fibre fat content’. No sign of enzyme deficiency (2002)
• Ischaemic forearm exercise tests shows a normal rise and fall of serum lactate and also of ammonia. No evidence of glycogenolytic abnormality in the muscle (2002)
• Skin Biopsy (investigate muscle fat metabolism) and blood tests (taken when arm exercised) were ‘Entirely Normal’ (2002)
• Prescribed Thyroxin for underactive thyroid after viewing blood tests. No noticeable improvement after 6 months (2014)
• Fitness testing - 30 minute session – last 3 minutes at 18km/hr. VO2 max – 64. Low heart rate. Both VO2 and heart rate profiles are normal, as is the lactate response (2015)
• Vascular ultrasound – no sign of popliteal artery entrapment syndrome (PAES) (2015)
• MRI Neck and Spine– L5 Bilateral Pars Defect. No slippage evident. No evidence of AVM (2015)
• Cardio-vascular examination, exercise ECG stress test and Echocardiogram (2015)
• Neurologist consult (2015)
• Alpha-Galactosidase level normal – not Fabry disease.
• Serum Creatinine Kinase level is 144. Normal range is 40 to 320
• Low iron levels for an athlete (RBC count - 4.37, Haematocrit - 0.39, Serum Ferritin - 50 ug/l)
• Pre and immediately (within 30mins) post exercise CK blood tests 73 iu/L pre and 93 iu/L post exercise.
• MRI Full spine with contrast (June 2016) – only minor degeneration. No evidence of AVM