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...

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Bibliographic Details
Main Authors: Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye
Format: Article
Language:English
Published: SpringerOpen 2022-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Online Access:https://doi.org/10.1186/s43042-022-00290-0
Description
Summary: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.
ISSN:2090-2441