The needle EMG findings in myotonia congenita

Myotonia congenita (MC) is caused by pathogenic variants in the CLCN1 gene coding the chloride channel protein. To test the hypothesis that needle EMG could be helpful in distinguishing between the recessive and dominant MC, we performed EMG examination in 36 patients (23 men) aged 4–61 years with g...

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Bibliographic Details
Published in:Journal of electromyography and kinesiology 2019-12, Vol.49, p.102362-102362, Article 102362
Main Authors: Nojszewska, Monika, Lusakowska, Anna, Gawel, Malgorzata, Sierdzinski, Janusz, Sulek, Anna, Krysa, Wioletta, Elert-Dobkowska, Ewelina, Seroka, Andrzej, Kaminska, Anna M., Kostera-Pruszczyk, Anna
Format: Article
Language:English
Subjects:
Adolescent
Adult
Becker MC
Child
Child, Preschool
Diagnosis, Differential
Electromyography - methods
EMG
Evoked Potentials, Motor
Female
Genes, Dominant
Genes, Recessive
Humans
Male
Middle Aged
MUAP
Muscle, Skeletal - physiopathology
Mutation
Myotonia congenita
Myotonia Congenita - diagnosis
Myotonia Congenita - genetics
Myotonia Congenita - physiopathology
Thomsen MC
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Summary:Myotonia congenita (MC) is caused by pathogenic variants in the CLCN1 gene coding the chloride channel protein. To test the hypothesis that needle EMG could be helpful in distinguishing between the recessive and dominant MC, we performed EMG examination in 36 patients (23 men) aged 4–61 years with genetically proven MC: in 30 patients with autosomal recessive MC (Becker MC) and in 6 with autosomal dominant MC (Thomsen MC). Myotonic discharges were recorded in 95.8% of examined muscles. For the whole MC group we observed a significant positive correlation between parameters of motor unit activity potentials (MUAPs) in vastus lateralis and tibialis anterior muscles and the duration of the disease. Similar correlation for biceps brachii also was found in Becker MC subgroup only. EMG could still be helpful in diagnosis of MC and together with provocative tests might be useful in differentiation between recessive and autosomal MC.
ISSN:1050-6411
1873-5711
DOI:10.1016/j.jelekin.2019.102362