A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita
نویسندگان
چکیده
Non-dystrophic myotonia (NDM) is a group of rare mono-genetic muscle disorders caused by skeletal sodium or chloride channelopathies. These are characterized high tone and the inability muscles to relax spontaneously after voluntary contraction. Myotonia congenita refers form NDM that typically manifests during later stages childhood. It occurs as result genetic mutations affecting channels found in sarcolemma membrane muscles. Here, we present case series two male siblings born out third-degree consanguineous union ages 10 eight years, respectively, who presented with proximal weakness characteristic “Herculean body” appearance. They demonstrated clinical diagnostic signs myotonia. The diagnosis was confirmed through distinctive electromyography (EMG) findings, which were further supported testing revealing homozygous mutation c.1445G>A exon 13 CLCN1 gene, indicating autosomal recessive inheritance. This uncommon condition exhibits manifestations classical EMG difficult disregard once encountered. Genetic tests serve valuable tool validate diagnosis.
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ژورنال
عنوان ژورنال: Cureus
سال: 2023
ISSN: ['2168-8184']
DOI: https://doi.org/10.7759/cureus.40869