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Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.
Nambu, Yoshinori; Shirakawa, Taku; Osawa, Kayo; Nishio, Hisahide; Nozu, Kandai; Matsuo, Masafumi; Awano, Hiroyuki.
Afiliación
  • Nambu Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Shirakawa T; Faculty of Health Sciences, Department of Medical Technology, Kobe Tokiwa University, Kobe, Japan.
  • Osawa K; Faculty of Health Sciences, Department of Medical Technology, Kobe Tokiwa University, Kobe, Japan.
  • Nishio H; Faculty of Rehabilitation, Research Center for Locomotion Biology, Kobe Gakuin University, Kobe, Japan.
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Matsuo M; Faculty of Health Sciences, Department of Medical Technology, Kobe Tokiwa University, Kobe, Japan.
  • Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
SAGE Open Med Case Rep ; 12: 2050313X231221436, 2024.
Article en En | MEDLINE | ID: mdl-38187815
ABSTRACT
Becker muscular dystrophy is caused by DMD mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in mutations and environmental factors. In this case, two brothers, aged 2 and 3 years, had the identical DMD mutation, confirming their Becker muscular dystrophy diagnosis. They began using handrails when ascending and descending stairs at the age of 16 due to progressive muscular weakness. Over an 18-year follow-up, the older brother consistently had high serum creatine kinase levels, significantly over median levels. Muscle computed tomography finings revealed that the older brother's gluteus maximus and vastus femoris cross-sectional areas were only half and one-third of the younger brother's, respectively. The mean computed tomography values of gluteus maximus and vastus femoris were significantly lower in the older brother. Our report suggests that muscle atrophy in Becker muscular dystrophy cannot be solely explained by dystrophin mutation or environmental factors.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: SAGE Open Med Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: SAGE Open Med Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido