J Korean Acad Rehabil Med.  2005 Oct;29(5):537-540.

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

• Yang MS
• Lee DK
• Oh KY
• Choi KS
• Lee KH

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 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.

Keyword

Duchenne muscular dystrophy; Turner syndrome; 45X; Female

MeSH Terms

Child
Creatinine
Diagnosis
Female*
Gait
Humans
Karyotyping
Multiplex Polymerase Chain Reaction
Muscle Weakness
Muscles
Muscular Diseases
Muscular Dystrophy, Duchenne*
Phosphotransferases
Reflex, Stretch
Turner Syndrome*
Wills
Creatinine
Phosphotransferases