A rare case of dystrophinopathy: Duchenne muscular dystrophy-Becker muscular dystrophy intermediate complex.

Autor: Gulati, Rachna, Bose, Tathagata, Katoch, Neena, Ahuja, Manish, Pandit, Subhendu
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Zdroj: Journal of Medicine in Scientific Research; Oct-Dec2022, Vol. 5 Issue 4, p498-502, 5p
Abstrakt: An 18-year-old boy with no significant perinatal history presented with insidious onset of slowly progressive flaccid paraparesis with muscle wasting in thighs. On examination, the patient had flaccid motor quadriparesis and partial atrophy of proximal thigh muscles. This was accompanied by pseudohypertrophy of calf muscles and extensor muscles in the dorsum of foot. Investigations revealed very high levels of creatinine phosphokinase in the patient (6495 IU/l in contrast to normal range of 55-170 IU/l) and in his sister (718 IU/l). Echocardiography showed dilated cardiomyopathy with severe left ventricular dysfunction. The multiplex ligation-dependent probe amplification revealed deletion of exons 3 to 7 in the short arm of X chromosome (Xp21). Based on the clinical features and investigation reports, a diagnosis of intermediate phenotype of Duchenne and Becker muscular dystrophy was made. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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