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Emery-Dreifuss Muscular Dystrophy
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(See Table 50-1) This is another X-linked muscular dystrophy, characterized by the special feature of muscle contractures, but relatively benign in comparison with the Duchenne type It was described originally by Emery and Dreifuss and subsequently by Hopkins and by Merlini and their colleagues The primary gene defect is a de ciency of the protein emerin, encoded by a gene on the X chromosome Emerin is a constituent of the nuclear membrane (Fig 50-2) The age of onset varies from childhood to late adolescence or adulthood Weakness affects rst the upper arm and pectoral girdle musculature and later the pelvic girdle and the distal muscles in the lower extremities A consistent and distinguishing feature of the disease is the early appearance of contractures in the exors of the elbow, extensors of the neck, and posterior calf muscles Facial
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Facioscapulohumeral (FSH) Muscular Dystrophy (Landouzy-Dejerine Muscular Dystrophy) (See Table 50-2)
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This is a slowly progressive dystrophy involving primarily the musculature of the face and shoulders, often with long periods of nearly complete arrest The pattern of inheritance is usually autosomal dominant While less common than the Duchenne and myotonic dystrophies, this disease is not rare (an estimated yearly incidence rate of 5:100,000) and we see one or more new cases yearly The age of onset is usually between 6 and 20 years but cases beginning in early adult life are occasionally encountered As a rule, the rst manifestations are dif culty in raising the arms above the head and winging of the scapulae, although in many cases bifacial weakness may have initially attracted attention, even in early childhood There is involvement especially of the orbicularis oculi, the zygomaticus, and the orbicularis oris, whereas the masseters as well as the temporalis, extraocular, pharyngeal, and respiratory muscles
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DISEASES OF SPINAL CORD, PERIPHERAL NERVE, AND MUSCLE
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Table 50-2 Selected muscular dystrophies*
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ONSET TYPE GENE OR CHROMOSOME DECADE CK ELEVATION REGIONS AFFECTED
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Myotonic dystrophy Proximal myotonic myopathy Facioscapulohumeral dystrophy Oculopharyngeal dystrophy Bethlem myopathy
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Expanded intronic CTG repeat in myotonin kinase Expanded intronic CCTG repeat in zinc nger protein Multigene dysregulation at 4q telomore Exonic GCG expansion (alanine) in poly-A binding protein Collagen VI, subunits 1-3
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Distal weakness, myotonia, cataracts Testicular atrophy, balding, cardiac arrhthymias Resembles myotonic dystrophy with prominent proximal muscle weakness but no infancy onset; less facial weakness Facial, scapular, anterior tibial muscles Hearing loss, ocular telangiectasias Oculopharyngeal and levator palpebrae muscles Proximal weakness Contractures in ngers, elbows, knees May present as CMD
* All inherited in an autosomal dominant pattern CMD: childhood muscular dystrophy CCTG: cytosine, cytosine, thymine, guanidine CTG: cytosine, thymine, guanidine GCG: guanidine, cytosine, guanidine
are spared Weakness and atrophy of the involved muscles are the major physical ndings; pseudohypertrophy occurs only rarely and is slight There is an inability to close the eyes rmly, to purse the lips, and to whistle; the lips have a peculiar looseness and tendency to protrude The lower parts of the trapezius muscles and the sternal parts of the pectorals are almost invariably affected By contrast, the deltoids may seem to be unusually large and strong, an appearance that may be mistaken for pseudohypertrophy The advancing atrophic process involves the sternocleidomastoid, serratus magnus, rhomboid, erector spinae, latissimus dorsi, and eventually the deltoid muscles The bones of the shoulders become prominent; the scapulae are winged and elevated ( angel-wing appearance), and the clavicles stand out The anterior axillary folds slope down and out as a result of wasting of the pectoral muscles Usually the biceps waste less than the triceps, and the brachioradialis muscles even less, so that the upper arm may be thinner than the forearm ( Popeye effect) Pelvic muscles are involved later and to a milder degree, giving rise to a slight lordosis and pelvic instability The pretibial muscles weaken, and foot drop is added to the waddling gait Beevor s sign, an upward movement of the umbilicus on exing the neck due to weakness of the lower abdominal muscles, is reportedly common (Awerbuch et al) but we have not seen it in early cases Early in the disease, the muscular weakness may be asymmetrical (winging of only one scapula) Many of the patients with milder degrees of this form of dystrophy are unaware that they have the disease This was true of nearly half of the very large series of patients described by Tyler and Stephens in the Utah Mormon population At any point, the disease may become virtually arrested Nevertheless, 15 to 20 percent of patients eventually require a wheelchair (Tawil et al) An occasional feature of this group of diseases is the congenital absence of a muscle (one pectoral, brachioradialis, or biceps femoris) or part of a muscle in patients who later develop the typical features of FSH Also, the external ocular muscles are known to occasionally become affected late in the illness Cardiac involvement is rare, but in a few of the cases tachycardia, cardiomegaly,
and arrhythmias (ventricular and atrial extrasystoles) have occurred Mental function is normal Serum CK values are normal or slightly elevated At a molecular level, facioscapulohumeral dystrophy has been found to have a consistent association with deletions of variable size on the tip of chromosome 4q This disorder is a consequence of alterations of a noncoding portion of DNA It has been postulated that the deletions interfere with the expression of a gene or genes located proximal to the deletions (see Tawil et al) or that they alter the conformation of chromosome 4 within the nucleus, thereby affecting gene expression A variant in which only the shoulder and arm muscles are affected, sparing the face, and a form with bilateral foot drop are known (Krasnianski et al) In some cases, usually with severe deletions at the FSH locus on chromosome 4, there is an early onset and relatively rapid progression and an association with facial diplegia, sensorineural deafness, and, sometimes, exudative retinal detachment (Coats disease) Using uorescein angiography, Fitzsimmons and others have found a variety of other retinal abnormalities telangiectases, occlusion, leakage, and microaneurysms in 56 of 75 persons with the usual form of facioscapulohumeral dystrophy, suggesting that these retinal abnormalities are an integral part of the disease Other subtypes of FSH are linked to the same genetic site as the classic disease, including a face-sparing variant and a completely unexpected phenotype with progressive external ophthalmoplegia
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