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"   Question I was trying to find out info regarding Macardinals disease. I&amp;#039;m not sure of the spelling. It is apparently an extremely rare muscle disease. Can you help?   Answer The spelling does seem to vary but it&amp;#039;s mostly known as McArdle&amp;#039;s or MacArdle&amp;#039;s disease, it&amp;#039;s also referred to as &amp;#039;Type V glycogen storage disease&amp;#039;. It is an inherited condition that interferes with the way stored energy is used within muscles. Normally, sugar in the form of glucose molecules is packaged away in muscle cells so that it&amp;#039;s available as fuel when the cells are working hard, contracting the muscle fibre. Glucose is most usefully stored as linked chains, known as glycogen. The problem in McArdle&amp;#039;s disease is that the glycogen cannot be broken down to be used for energy release and muscle damage is caused when the energy demand is greater than the aerobic pathway can supply. The symptoms seem to reflect this. Sufferers find exercise difficult. They get tired and their muscles feel weak with of intense activity or moderate exercise that is prolonged, such as climbing a hill or stairs. However, most folk with the condition don&amp;#039;t have too much trouble sustaining a walk on level ground. Damage to muscle cells can cause cramps and tenderness. Occasionally sufferers report burgundy-coloured urine, which is caused by the remnants of damaged muscle filtering out of the blood and into urine via the kidneys. This is not good for kidneys, because muscle remnants can potentially block-up the kidneys&amp;#039; filtering system. It is usually diagnosed in the second or third decade even though symptoms might have been present earlier. It can only be confirmed by analysis of a small piece of muscle, removed under local anaesthetic (biopsy). It is inherited as an autosomal recessive disorder. This means that to develop the condition you need to have acquired the abnormal gene from both parents. If you suffer the condition, all your offspring will carry the gene, but will not experience the disease unless your partner is a carrier too, in which case there is a 50 per cent chance of a child inheriting the condition. The offspring of two carriers have a 25 per cent chance of developing the condition. It is possible to have a blood sample analysed to detect the gene in those who carry it. This is quite complicated and it would be wise to request some expert genetic counselling if family planning is an issue. Unfortunately, there is no known way of correcting the underlying abnormality. Sufferers are advised to avoid extreme exercise and sometimes benefit from taking sugar (glucose and fructose) by mouth during moderate activity. The good news is that it does not seem to have any significant effect on life-expectancy. This is rather a lot of information to absorb, but hopefully it&amp;#039;s of some help. 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