Duchenne Muscular Dystrophy in a Girl with Turner Syndrome: A case report.

, Yang, Myoung Seok; , Lee, Do Kyoung; , Oh, Ki Young; , Choi, Ki Seob; , Lee, Kyu Hoon

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2005;29(5):537-540.

Yang, Myoung Seok , Lee, Do Kyoung , Oh, Ki Young , Choi, Ki Seob , Lee, Kyu Hoon

¹Department of Rehabilitation Medicine, Hanyang University College of Medicine, Korea. dumitru1@hanyang.ac.kr
²Department of Rehabilitation Medicine, Soonchunhyang University College of Medicine, Korea.
³Hanyang Rehabilitation Clinic, Korea.

터너 증후군 여아에서 발생한 뒤시엔느형 근 디스트로피⁣증례 보고⁣

양명석, 이도경, 오기영¹, 최기섭², 이규훈

한양대학교 의과대학 재활의학교실, ¹순천향대학교 의과대학 재활의학교실, ²한양재활의학과의원

Abstract

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 andpseudohypertrophy 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. (J Korean Acad Rehab Med 2005; 29: 537-540)

Key Words: Duchenne muscular dystrophy, Turner syndrome, 45X, Female