Autosomal dominant myotonia congenita (Thomsen's disease)‎ : a report of the first saudi family and literature review

الملخص EN

Objective : To report the clinical and electromyographic profile of patients diagnosed with autosomal dominant (Thomsen 's) myotonia congenita.

Setting : Nem·ology service at King Fahd Hospital of tbe University (KFHU), AJ-Khobat·, Saudi Arabia.

l\!Iethods : Review of a patient diagnosed with autosomal dominant (Thomsen's) myotonia congenita and his immediate family members.

Results : Autosomal dominant (Thomsen's) myotonia congenita was diagnosed in 3 members of the same family, mother and t·wo offsprings ( 1 male, I female).

The main features of the disease was autosomal dominant inheritance, painless myotonia that improved with exercise "·warm up phenomenon", absence of weakness, muscle hypet·trophy and myotonic discharges on electromyography.

Conclusion: The first Saudi family with Thomsen's myotonia congenita is reported.

Further evaluation exploring the extent of the disease in this kindred is warranted.