Abstract

BackgroundCongenital 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 presentationThis 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.ConclusionThe authors report a case of Becker congenital myotonia in a black African with molecular confirmation. Mexiletine was used as symptomatic agent with good results.

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.