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KMID : 0361420050290050537
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Journal of Korean Academy of Rehabilitation Medicine
2005 Volume.29 No. 5 p.537 ~ p.540
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Duchenne Muscular Dystrophy in a Girl with Turner Syndrome
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Yang Myoung-Seok
Lee Do-Kyoung
Oh Ki-Young
Choi Ki-Sub
Lee Kyu-Hoon
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Abstract
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Duchenne Muscular Dystrophy (DMD) is an X-linked, recessive disorder characterized by progressive muscular weakness, Gower sign, waddling gait and pseudohypertrophy of the calf muscles. Little is reported about DMD manifestations in females because of its’ X-linked, recessive inheritance. The authors described a 12-year-old female with gait disturbance. Her symptoms were diminished muscle power, decreased deep tendon reflexes, Gower sign and pseudohypertrophy of calf muscle. Serum creatinine kinase level was elevated to 1,674 U/ml. Electromyographic findings were compatible with myopathy. Histopathologic examination of the muscles confirmed the diagnosis of DMD. The result of karyotyping was 45X, but multiplex PCR (Polymerase Chain Reaction) analysis showed normal findings.
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KEYWORD
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Duchenne Muscular Dystrophy, Turner Syndrome, 45X, Female
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