A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita

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