Duchenne Muscular Dystrophy in a Girl with Turner Syndrome: A case report
Journal of the Korean Academy of Rehabilitation Medicine
;
: 537-540, 2005.
Artículo
en Coreano
| WPRIM
| ID: wpr-722596
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fosfotransferasas
/
Reflejo de Estiramiento
/
Síndrome de Turner
/
Testamentos
/
Debilidad Muscular
/
Distrofia Muscular de Duchenne
/
Creatinina
/
Diagnóstico
/
Reacción en Cadena de la Polimerasa Multiplex
/
Marcha
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Academy of Rehabilitation Medicine
Año:
2005
Tipo del documento:
Artículo
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