# Autosomal Recessive Myotonia Congenita in an Adolescent Boy With Novel Mutation: A Case Report With Discussion on Management

## TL;DR

A 14-year-old boy with a rare muscle condition caused by a new genetic mutation showed improvement with medication.

## Contribution

A novel homozygous mutation in the CLCN1 gene is reported in autosomal recessive myotonia congenita.

## Key findings

- A new eight-base pair insertion in exon 19 of the CLCN1 gene was identified in a patient with myotonia congenita.
- Treatment with mexiletine significantly improved the patient's symptoms and quality of life.
- Clinical examination and electromyography are effective for diagnosing myotonia congenita.

## Abstract

Congenital myotonia represents a rare group of genetically inherited conditions. It can be either autosomal dominant (Thomsen) or autosomal recessive (Becker). It is characterized by muscular hypertrophy, proximal weakness, and myotonia, or impaired relaxation after contraction. These are due to mutations in the CLC1 gene.

A 14-year-old male child presented with complaints of gradually progressive weakness for five years. Weakness was more pronounced in the proximal muscle groups. The weakness worsened after rest and improved with activity. This led to absenteeism and affected his school performance. Clinical examination showed generalized muscular hypertrophy with pronounced hypertrophy of the calf muscles. A neurological examination showed significant myotonia and impaired relaxation after making a fist. The diagnosis of myotonia was confirmed by electromyography, which produced a dive-bomber sound on insertion. Next-generation sequencing revealed a homozygous eight-base pair insertion in exon 19 of the CLCN1 gene. This mutation has not been reported in the existing literature for myotonia congenita. The child was started on mexiletine and improved significantly. Presently, the patient is on regular medications and doing well on follow-up.

Though rare, congenital myotonia is an important cause of neuromuscular weakness. It can be easily diagnosed with a thorough clinical examination and routine testing for myotonia in all children with weakness. The treatment is relatively simple and can give the patient significant relief.

Myotonia can be easily diagnosed clinically, and pharmacotherapy and proper monitoring can remarkably improve patients’ quality of life.