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Machuca-Tzili L et al Clinical and molecular aspects of the myotonic dystrophies: a review Muscle Nerve 2005 Jul;32 (1):1 18 [PMID: 15770660] Trip J et al Drug treatment for myotonia Cochrane Database Syst Rev 2006 Jan 25;(1):CD004762 [PMID: 16437496]
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Myotonia congenita is commonly inherited as a dominant trait The responsible gene may be on the long arm of chromosome 7 Generalized myotonia without weakness is usually present from birth, but symptoms may not appear until early childhood Patients complain of muscle stiffness that is enhanced by cold and inactivity and relieved by exercise Muscle hypertrophy, at times pronounced, is also a feature A recessive form with later onset is associated with slight weakness and atrophy of distal muscles Treatment with quinine sulfate, procainamide, tocainide, mexiletine, or phenytoin may help the myotonia, as in myotonic dystrophy
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This disorder, of unknown cause, begins insidiously, usually after middle age, with progressive proximal weakness of first the lower and then the upper extremities, and affecting facial and pharyngeal muscles Weakness often begins in the quadriceps femoris in the lower limbs and the forearm flexors in the upper limbs Distal weakness is usually mild Serum creatine kinase levels may be normal or increased The diagnosis is confirmed by muscle biopsy Corticosteroid and immunosuppressive therapy is usually ineffective, but IVIG therapy is occasionally of mild benefit
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Griggs RC The current status of treatment for inclusion-body myositis Neurology 2006 Jan 24;66(2 Suppl 1):S30 2 [PMID: 16432142]
Myotonic dystrophy, a slowly progressive, dominantly inherited disorder, usually manifests itself in the third or fourth decade but occasionally appears early in childhood The genetic defect has been localized to the long arm of chromosome 19 in the type 1 disorder Myotonia leads to complaints of muscle stiffness and is evidenced by the marked delay that occurs before affected muscles can relax after a contraction This can often be demonstrated clinically by delayed relaxation of the hand after sustained grip or by percussion of the belly of a muscle In addition, there is weakness and wasting of the facial, sternocleidomastoid, and distal limb muscles Associated clinical features include cataracts, frontal baldness, testicular atrophy, diabetes mellitus, cardiac abnormalities, and intellectual changes In myotonic dystrophy type 2, the clinical features are similar but a different gene is involved (3q213) Electromyographic sampling of affected muscles reveals myotonic discharges in addition to changes suggestive of myopathy It is difficult to determine whether drug therapy for myotonia is safe or effective Myotonia is widely treated with phenytoin (100 mg three times daily), quinine sulfate (300 400 mg three times daily), or procainamide (05 1 g four times daily) More recently, tocainide and mexiletine have been used Phenytoin is preferred, since the other drugs may
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The mitochondrial myopathies are a clinically diverse group of disorders that on pathologic examination of skeletal muscle with the modified Gomori stain show characteristic ragged red fibers containing accumulations of abnormal mitochondria Patients may present with progressive external ophthalmoplegia or with limb weakness that is exacerbated or induced by activity Other patients present with central neurologic dysfunction, eg, myoclonic epilepsy (myoclonic epilepsy, ragged red fiber syndrome, or MERRF), or the combination of myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) These disorders result from separate abnormalities of mitochondrial DNA (See also 20) Treatment is symptomatic and palliative, but various experimental approaches are being explored
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