First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.

ABSTRACT:

Background

Becker's type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is caused by mutations in the CLCN1 gene, which encodes for a chloride channel mainly expressed in the striated muscle. Most cases have been reported in the European population, and only mexiletine has demonstrated a randomized placebo-controlled, double-blinded effectiveness.

Case presentation

We present two male siblings from Colombia with Latino ancestry, without parental consanguinity, with myotonia during voluntary movements, muscle hypertrophy of lower extremities, transient weakness, and severe muscle fatigue after exercise from three years of age. A

SUBMITTER: Olave-Rodriguez JA 

PROVIDER: S-EPMC8687676 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature