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| What Is Muscular Dystrophy | ||||||||||||||||
| How are muscular dystrophies diagnosed? Usually the characteristic pattern of weakness and the resulting disability suggest the diagnosis. Often there are typical effects on posture and gait, that is on how an affected person stands and walks. When the muscles of the face are affected, the facial expression is altered in a recognisable way. Enlargement of calf muscles and sometimes other muscles is typical of some muscular dystrophies. Myotonic muscular dystrophy is associated with delayed muscle relaxation, called myotonia. This is noticed especially when trying to relax after gripping tightly. Affected people sometimes describe this as "stiffness". Cramps occur in some muscular dystrophies, especially Becker muscular dystrophy. Otherwise, pain is not usually a feature of muscular dystrophy. A diagnosis of muscular dystrophy has genetic implication for family members. It is therefore important that the diagnosis be made as soon as possible, so that genetic advice can be offered. In the case of Duchenne muscular dystrophy, if the diagnosis is suspected a blood test (serum creatine kinase, SCK) will show whether the diagnosis is possible or not. Affected boys always have very high levels of SCK and a normal or slightly increased level rules out the diagnosis. A suspicion of any type of muscular dystrophyis investigated by diagnostic tests. These include blood tests (eg SCK), electromyography and muscle biopsy. Electromyography consists of observing the electrical activity generated in muscle when it contracts, through a needle inserted in the muscle. Muscle biopsy is usually the confirmatory test. A small piece of muscle is removed for examination under a microscope and sometimes also for chemical examination. Often samples are taken from more than one muscle (eg thigh and upper arm). It is sometimes possible to get a satisfactory specimen through a needle, using local anaesthetic, which makes it a very minor procedure. Sometimes a general anaesthetic and a surgical incision are necessary. |
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