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Título

A case report of recessive myotonia congenita (Becker’s disease) and epilepsy. Is it causal or casual link?

RESUMO

Male, with normal neuropsychomotor development in early childhood, started at 7 years of age with generalized epileptic seizures. He was treated with carbamazepine and phenytoin, evolving with complete remission of the attacks in 1 year. At 10 years of age, he developed stiffness, progressive distal and proximal weakness of the upper and lower limbs, initially with stumbling and difficulty running. At the age of 15, he developed the need for a wheelchair to walk distances of more than 100 meters. At 18 years of age, he presents fatigue and tiredness to chew solid foods. Past history: Pregnancy and delivery without complications. Family history: no neurological disease. Neurological examination shows: Myotonic phenomena in hands, mouth and tongue, with Warm up sign. Gowers sign present. Hypermobility of the interphalangeal joints of the hands, swan-necked fingers. Biceps, deltoids and gastrocnemius with pseudohypertrophy. Presents facial and masticatory muscle weakness, mild weakness for neck flexion. Muscle strength grade 4 proximal and distal lower limbs, grade 4 proximal and 3 distal upper limbs. Patellar reflexes 3/4 and Achilles 3/4. Sensitivity preserved. Myopathic gait. Laboratory tests with a slight increase in CK levels (341 U/L). Electroencephalogram (2012): epileptic activity characterized by polyspicules. MRI of the brain (2012): no changes. Electromyography (2022): diffuse myotonic discharges. Genetic Test (2022): heterozygous variants of autosomal recessive pattern, CLCN1 chr7:143,351,593 G>A c.2596-1G>A and Gene CLCN1 chr7:143,342,461 T> C. Confirming the diagnosis of Myotonia Congenita (MC) recessive disorder (Becker) that is associated with moderate to severe myotonia. Studies show evidence that CLCN1 may be a gene that can also cause generalized genetic epilepsy. This case illustrates a patient diagnosed with Becker's Autosomal Recessive Myotonia Congenita, confirmed by genetic testing, associated with epilepsy and hypermobility of the phalanges. Epilepsy is rarely described in patients with CM but some studies suggest a role of CLCN1 in regulating brain excitability, it may be that the disorders are linked by this mutation in the chloride channel.

Palavras Chave

Becker's myotonia congenita, myotonia congenita, muscle diseases, chloride channel gene mutations, CLCN1

Área

Doenças Neuromusculares