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Neurology India, Vol. 52, No. 3, July-September, 2004, pp. 363-364 Case Report Beckers variant of myotonia congenita in two siblings- A clinico-genetic study Bhattacharyya KalyanB, Sengupta P, Basu S, Bhattacharya NP Department of Neurology, Calcutta National Medical College & Hospital, 24 Gorachand Road, Calcutta - 700 014 Code Number: ni04117 ABSTRACT We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Beckers variety). To the best of our knowledge, no account of a family of autosomal recessive myotonia (Beckers disease), has earlier been reported from India.KEY WORDS: Myotonia congenita, Becker’s variant, trinucleotide repeat INTRODUCTION Congenital myotonia refers to an uncommon hereditary disease of skeletal muscles that begins in early life and is characterized by myotonia and muscular hypertrophy. The condition may present in autosomal dominant or recessive forms. The former variety is subdivided into Thomsen′s disease and myotonia levior, the latter being milder in manifestation. The recessive form is known as Becker′s disease[1] and both the forms are considered as chanellopathies, where the transport of chloride ion is faulty and the genetic locus is assigned to 7q35 chromosome.[2] Becker′s variant starts with myotonia and muscular hypertrophy imparting it the classic description ′Herculean features′. Sometimes, this condition is associated with muscular weakness and wasting that is not always clinically detectable. The myotonia ′warms up′ with repeated activity and the patient walks normally with ease. The disease may progress up to adulthood and thereafter, it remains static and the lifespan usually is not shortened. We report a family of brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker′s variety), where the brother presented with signs of myotonia and muscular hypertrophy, while his asymptomatic sister was found to display almost identical features. The relevant literature in this regard has been reviewed. CASE REPORT A 16-year-old Hindu male, born of a non-consanguineous marriage complained of difficulty in initiating his gait. The problem used to resolve as he started walking and he stated that if he grasped an object firmly in his hand, releasing it was difficult and the palm maintained the posture of incomplete opening. On direct enquiry he stated that if and when he sneezed, he assumed a grotesque countenance since his eyelids used to be tightly closed and the mouth would remain open along with the contraction of the forehead muscles. On examination, the thighs, calf muscles and proximal muscles in the upper limbs were hypertrophied and there was evidence of grip, tongue and eyelid myotonia. Getting up from a sitting posture was accomplished with difficulty and initiation of movement was slow which improved as he continued to walk. The forearms were partially wasted and there was no clinical stigmata of dystrophia myotonica, paramyotonia congenita or chondrodystrophic myotonia. On examining his parents and the sister it was observed that the sister was also well built with hypertrophied thigh muscles and there was evidence of grip mytonia. The parents had no neurological abnormality. Considering the autosomal recessive pattern of inheritance and the clinical picture, the diagnosis of Becker′s variety of myotonia congenita was entertained. Investigations Genetic testing and detection of trinucleotide repeat (CTG) repeats in DNA DISCUSSION The brunt of Becker′s disease falls on the lower limbs, probably as a result of work hypertrophy, since the quadriceps and other muscles are in a continual state of contraction. The cranial musculature is also frequently involved, where classically there is visible myotonia of the eyelids after the patients is asked to open the eyes following forceful closure. Serum CK is elevated two to three times and serum potassium is normal during and between attacks. Both the dominant and the recessive forms of myotonia congenita are linked to CLCN-1 gene on chromosome 7q35 encoding the skeletal muscle chloride channel and the differences between the two types of myotonia are probably caused by different mutations of the same gene suggesting that the diseases are allelic.[5] Sun et al[6] reported two sibs and a first degree cousin from a consanguineous marriage who demonstrated wasting of muscles and muscular contracture instead of muscular hypertrophy. Attempts to identify trinucleotide repeat expansion in both the varieties of myotonia congenita have turned negative. Sunohara et al in their work on a sporadic case of myotonia congenita could not find any abnormal expansion of CTG repeat within the myotonic dystrophy gene, as was the result of our study.[7] Wadia et al[8] described a case of generalized recessive myotonia and Prabhakar et al reported an identical case.[9] Sheela et al[10] described a family where five subjects suffered from myotonia and that conformed to the autosomal dominant variety of the disease. The present study is to the best of our knowledge, the first family of Becker′s variety of myotonia congenita that is being reported from India. We propose that the members of the family of every child presenting with myotonia should undergo detailed screening clinically and be tested for trinucleotide repeats, since congenital myotonia, in comparison to myotonic dystrophy or congenital myotonic dystrophy carries better prognosis and the subjects may live up to adult life. REFERENCES
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