Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1522203/full |
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| author | Menglin Tan Huiyi Huo Jieming Feng Chandi Wang Suhua Jiang |
| author_facet | Menglin Tan Huiyi Huo Jieming Feng Chandi Wang Suhua Jiang |
| author_sort | Menglin Tan |
| collection | DOAJ |
| description | Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness. Genetic testing showed that the number of D4Z4 repeat units in the sub-terminal region 4qA of chromosome 4q35 in the proband was only 4 (normal value ≥ 11) and, at the same time, a heterozygous deletion was found in exons 13–29 of DMD gene in the proband, thus the diagnosis was clinically and genetically compatible with both FSHD1 and BMD. Pedigree investigation revealed that his maternal grandmother, mother, aunt and cousin also had muscle weakness in the face, shoulders and limbs. Genetic testing confirmed that each of the four relatives had four D4Z4 repeats in the 4qA region, and all of them carried a heterozygous deletion in exons 13–29 of DMD. Based on the X-linked features of DMD/BMD, the maternal grandmother, mother, and aunt were diagnosed with FSHD1 combined with DMD deletion carriers, and the male cousin was diagnosed with FSHD1 combined with BMD. This study identifies a family with a co-occurrence of clinically overt FSHD1 and BMD, which has important reference value for the diagnosis and treatment of hereditary myopathies. |
| format | Article |
| id | doaj-art-c64bc6f97aef444884dc713ea3a9e3f0 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj-art-c64bc6f97aef444884dc713ea3a9e3f02025-01-07T06:45:02ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.15222031522203Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case reportMenglin TanHuiyi HuoJieming FengChandi WangSuhua JiangFacioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness. Genetic testing showed that the number of D4Z4 repeat units in the sub-terminal region 4qA of chromosome 4q35 in the proband was only 4 (normal value ≥ 11) and, at the same time, a heterozygous deletion was found in exons 13–29 of DMD gene in the proband, thus the diagnosis was clinically and genetically compatible with both FSHD1 and BMD. Pedigree investigation revealed that his maternal grandmother, mother, aunt and cousin also had muscle weakness in the face, shoulders and limbs. Genetic testing confirmed that each of the four relatives had four D4Z4 repeats in the 4qA region, and all of them carried a heterozygous deletion in exons 13–29 of DMD. Based on the X-linked features of DMD/BMD, the maternal grandmother, mother, and aunt were diagnosed with FSHD1 combined with DMD deletion carriers, and the male cousin was diagnosed with FSHD1 combined with BMD. This study identifies a family with a co-occurrence of clinically overt FSHD1 and BMD, which has important reference value for the diagnosis and treatment of hereditary myopathies.https://www.frontiersin.org/articles/10.3389/fgene.2024.1522203/fullFSHD1BMDFSHD1 combined with BMDgenetic diagnosiscase report |
| spellingShingle | Menglin Tan Huiyi Huo Jieming Feng Chandi Wang Suhua Jiang Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report Frontiers in Genetics FSHD1 BMD FSHD1 combined with BMD genetic diagnosis case report |
| title | Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report |
| title_full | Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report |
| title_fullStr | Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report |
| title_full_unstemmed | Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report |
| title_short | Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report |
| title_sort | facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy a family case report |
| topic | FSHD1 BMD FSHD1 combined with BMD genetic diagnosis case report |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1522203/full |
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