[P3-142] A case of eight years old girl with Becker type myotonia congenita
Background] Myotonia is a rare genetic disorder involving voluntary muscle fiber membrane causes impairment of relaxation of muscle contraction, resulting prolonged stiffness. It is typically exacerbated by resting and resolved by repeated contraction. There are autosomal dominant (Thomsen disease) and recessive forms (Becker disease) of myotonia congenita.
[Objective] Reporting rare case and management.
[Case] An 8 years old girl was referred with complaint of stiffness that occur after resting, started since four years before admission, causing pain and movement restriction. These symptoms were tended to remain constant, with little progression. Muscle hypertrophy was visible on trunk and extremities with a "herculean" or "body-builder like" appearance. Grip and percussion myotonia were present. Modified time up and go was prolonged. Electromyography demonstrated abundant spontaneous myotonic discharge. No family members were affected, thus an autosomal recessive form of myotonia congenita was concluded, and there were no parent’s consanguinity. There are no cures for any of myotonia congenita, but myotonic symptoms could be decreased with some medicine. Mexilentine as first line treatment is not available so we choose Carbamazepine and physiotherapy, improvement was apparent after a month. Genetic examination still in progress.
[Conclusion] Although rare, diagnosis of myotonia congenita can be achieved with careful examination. A physician should aware of its symptoms to avoid misdiagnosis.
[Objective] Reporting rare case and management.
[Case] An 8 years old girl was referred with complaint of stiffness that occur after resting, started since four years before admission, causing pain and movement restriction. These symptoms were tended to remain constant, with little progression. Muscle hypertrophy was visible on trunk and extremities with a "herculean" or "body-builder like" appearance. Grip and percussion myotonia were present. Modified time up and go was prolonged. Electromyography demonstrated abundant spontaneous myotonic discharge. No family members were affected, thus an autosomal recessive form of myotonia congenita was concluded, and there were no parent’s consanguinity. There are no cures for any of myotonia congenita, but myotonic symptoms could be decreased with some medicine. Mexilentine as first line treatment is not available so we choose Carbamazepine and physiotherapy, improvement was apparent after a month. Genetic examination still in progress.
[Conclusion] Although rare, diagnosis of myotonia congenita can be achieved with careful examination. A physician should aware of its symptoms to avoid misdiagnosis.