Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report
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,...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2024-01-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X231221436 |
| _version_ | 1797366087310901248 |
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| author | Yoshinori Nambu Taku Shirakawa Kayo Osawa Hisahide Nishio Kandai Nozu Masafumi Matsuo Hiroyuki Awano |
| author_facet | Yoshinori Nambu Taku Shirakawa Kayo Osawa Hisahide Nishio Kandai Nozu Masafumi Matsuo Hiroyuki Awano |
| author_sort | Yoshinori Nambu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T16:59:13Z |
| format | Article |
| id | doaj.art-c26b9481fcfd47f79e0c23171a9f9623 |
| institution | Directory Open Access Journal |
| issn | 2050-313X |
| language | English |
| last_indexed | 2024-03-08T16:59:13Z |
| publishDate | 2024-01-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj.art-c26b9481fcfd47f79e0c23171a9f96232024-01-04T16:06:18ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2024-01-011210.1177/2050313X231221436Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case reportYoshinori Nambu0Taku Shirakawa1Kayo Osawa2Hisahide Nishio3Kandai Nozu4Masafumi Matsuo5Hiroyuki Awano6Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, JapanFaculty of Health Sciences, Department of Medical Technology, Kobe Tokiwa University, Kobe, JapanFaculty of Health Sciences, Department of Medical Technology, Kobe Tokiwa University, Kobe, JapanFaculty of Rehabilitation, Research Center for Locomotion Biology, Kobe Gakuin University, Kobe, JapanDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, JapanFaculty of Health Sciences, Department of Medical Technology, Kobe Tokiwa University, Kobe, JapanOrganization for Research Initiative and Promotion, Tottori University, Yonago, JapanBecker 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.https://doi.org/10.1177/2050313X231221436 |
| spellingShingle | Yoshinori Nambu Taku Shirakawa Kayo Osawa Hisahide Nishio Kandai Nozu Masafumi Matsuo Hiroyuki Awano Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report SAGE Open Medical Case Reports |
| title | Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report |
| title_full | Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report |
| title_fullStr | Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report |
| title_full_unstemmed | Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report |
| title_short | Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report |
| title_sort | brothers with becker muscular dystrophy show discordance in skeletal muscle computed tomography findings a case report |
| url | https://doi.org/10.1177/2050313X231221436 |
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