Becker congenital myotonia in black African with molecular findings
Abstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the sever...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2022-04-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-022-00290-0 |
| _version_ | 1818022774279503872 |
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| author | Simon Azonbakin Diane Adovoekpe Marius Adjagba Jules Alao Gratien Sagbo Constant Adjien Anatole Laleye |
| author_facet | Simon Azonbakin Diane Adovoekpe Marius Adjagba Jules Alao Gratien Sagbo Constant Adjien Anatole Laleye |
| author_sort | Simon Azonbakin |
| collection | DOAJ |
| description | Abstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The causative factor is mutations in CLCN1 gene. Myotonia congenita is rarely reported in black especially in black African. Case presentation This is a case report of Becker Congenital Myotonia in a 36-year-old male from Benin. The symptoms arose at the age of 7 years with regular and progressive course and muscles pains. Electromyogram, blood sampling, laboratory investigations and muscles biopsy confirm the diagnostic with molecular finding. Conclusion The authors report a case of Becker congenital myotonia in a black African with molecular confirmation. Mexiletine was used as symptomatic agent with good results. |
| first_indexed | 2024-12-10T03:33:46Z |
| format | Article |
| id | doaj.art-6c5441750b5e4e5aa4e8776cebb3f1d1 |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-12-10T03:33:46Z |
| publishDate | 2022-04-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-6c5441750b5e4e5aa4e8776cebb3f1d12022-12-22T02:03:45ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412022-04-012311510.1186/s43042-022-00290-0Becker congenital myotonia in black African with molecular findingsSimon Azonbakin0Diane Adovoekpe1Marius Adjagba2Jules Alao3Gratien Sagbo4Constant Adjien5Anatole Laleye6Laboratoire d’Histologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, Faculté des Sciences de la Santé- Université d’Abomey-CalaviLaboratoire d’Histologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, Faculté des Sciences de la Santé- Université d’Abomey-CalaviLaboratoire d’Histologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, Faculté des Sciences de la Santé- Université d’Abomey-CalaviUnité d’Enseignement et de Recherche en Pédiatrie, FSSUnité d’Enseignement et de Recherche en Pédiatrie, FSSUnité d’Enseignement et de Recherche en Neurologie, FSSLaboratoire d’Histologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, Faculté des Sciences de la Santé- Université d’Abomey-CalaviAbstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The causative factor is mutations in CLCN1 gene. Myotonia congenita is rarely reported in black especially in black African. Case presentation This is a case report of Becker Congenital Myotonia in a 36-year-old male from Benin. The symptoms arose at the age of 7 years with regular and progressive course and muscles pains. Electromyogram, blood sampling, laboratory investigations and muscles biopsy confirm the diagnostic with molecular finding. Conclusion The authors report a case of Becker congenital myotonia in a black African with molecular confirmation. Mexiletine was used as symptomatic agent with good results.https://doi.org/10.1186/s43042-022-00290-0MyotoniaCongenitalBecker diseaseCLCN1 geneMexiletine |
| spellingShingle | Simon Azonbakin Diane Adovoekpe Marius Adjagba Jules Alao Gratien Sagbo Constant Adjien Anatole Laleye Becker congenital myotonia in black African with molecular findings Egyptian Journal of Medical Human Genetics Myotonia Congenital Becker disease CLCN1 gene Mexiletine |
| title | Becker congenital myotonia in black African with molecular findings |
| title_full | Becker congenital myotonia in black African with molecular findings |
| title_fullStr | Becker congenital myotonia in black African with molecular findings |
| title_full_unstemmed | Becker congenital myotonia in black African with molecular findings |
| title_short | Becker congenital myotonia in black African with molecular findings |
| title_sort | becker congenital myotonia in black african with molecular findings |
| topic | Myotonia Congenital Becker disease CLCN1 gene Mexiletine |
| url | https://doi.org/10.1186/s43042-022-00290-0 |
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