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DISEASES OF SPINAL CORD, PERIPHERAL NERVE, AND MUSCLE
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The following are some of the common problems that arise in the diagnosis of muscular dystrophy: 1 The diagnosis of muscular dystrophy in a child who has just begun to walk or in whom walking is delayed Tests of peak power on command cannot be used with reliability in small children The most helpful points in identifying Duchenne dystrophy are (a) unusual dif culty in climbing stairs or arising from a crouch or from a recumbent position on the oor, showing greater weakness at the hips and knees than at the ankles; (b) unusually large, rm calves; (c) male sex; (d) high serum CK, aldolase, and myoglobin levels; (e) myopathic EMG; (f) biopsy ndings; and (g) special methods of testing for dystrophin protein (see previous discussion) The adult patient with diffuse or proximal muscle weakness of several months duration, raising the question of polymyositis versus dystrophy Even biopsy may be misleading in showing a few in ammatory foci in an otherwise dystrophic picture The main points that help to distinguish polymyositis from adult dystrophy have been indicated in Chap 49 As a rule, polymyositis evolves more rapidly than dystrophy and is associated with high CK and aldolase values (higher than most of the dystrophies except the Duchenne and distal Miyoshi types), and the EMG shows many brillation potentials (rare in adult forms of muscular dystrophy) With these points in mind, if immunostaining of a muscle biopsy fails to reveal the diagnosis of a dystrophy, there may still be uncertainty, in which instance a trial of prednisone may be indicated for a period of 6 months Unmistakable improvement favors polymyositis; questionable improvement (physician s and patient s judgment not in accord) leaves the diagnosis unsettled but suggests inclusion of body myopathy or a dystrophy An adult with a very slowly evolving proximal weakness In addition to facioscapular and limb-girdle dystrophies, myositis and inclusion body myopathy, several of the congenital polymyopathies discussed in Chap 52 may begin to cause symptoms or to worsen in adult years These include central core and nemaline myopathy Examples have been reported in the adult of mild forms of acid maltase or debrancher enzyme de ciency with glycogenosis, progressive late-stage hypokalemic polymyopathy, mitochondrial myopathy, and carnitine polymyopathy Muscle biopsy and histochemical staining of the muscle usually provide the correct diagnosis The occurrence of subacute or chronic symmetrical proximal weakness in a child or adolescent that raises the question of spinal muscular atrophy (Kugelberg-Welander type see page 946) as well as of polymyositis and muscular dystrophy Electromyography and muscle biopsy settle the matter by distinguishing neuropathic from myopathic changes Some of the same problems arise in an adult with distal dystrophy Weakness of a shoulder or one leg of some weeks standing, with increasing atrophy This is usually due to a radiculopathy or mononeuritis, the beginning of motor system disease (progressive spinal muscular atrophy), but rarely may be the early stage of a muscular dystrophy The rst two may develop silently, in mild form, and attract notice only when wasting begins (denervation atrophy takes 3 to 4 months to
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reach its peak) Points in favor of these acquired diseases are (a) acute or subacute onset and pain, (b) con nement of the disease to muscles originally affected and sparing of other muscles, and (c) an EMG showing denervation effects Biopsy is seldom performed under such circumstances, for, by temporizing, the problem eventually settles itself Invariably muscle dystrophy becomes bilateral and symmetrical; mononeuritis stabilizes or recovers; motor neuron disease declares itself by the presence of fasciculations and relatively rapid progression of weakness Facioscapulohumeral dystrophy may begin with asymmetric shoulder weakness 6 The distinctions, in the child or adolescent, between dystrophy and one of the congenital or metabolic myopathies are considered in relation to these disorders (Chaps 51 and 52)
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