Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.
Victor M., Ropper AHDisorders of Muscle characterized by Cramp, Spasms, Pain and localized masses . In: Victor M, Ropper AH, eds. Adams and Victor’s Principles of Neurology . 7th ed. New York, New York : McGraw-Hill Company Inc; 2001:1566-1582.
5.
Smith SA, Swaiman KFMuscular dystrophies. In: Swaiman KF, Ashwal S, eds. Pediatric Neurology, Principles and Practice. 3rd ed. St Louis, Missouri: Mosby Inc; 1999:1235-1256.
6.
von Eulenberg A.ueber eine familiare, durch 6 genertionen verfolgbare Form congenitaler paramyotonie. Neurologisches centralblatt. 1886;4:265-272.
7.
Nielsen VK, Friis ML, Johnsen T.Electromyographic distrinction between paramyotonia congenita and myotonia congenita: effect of cold. Neurology. 1982 ;32:827-832.
8.
Davies NP, Eunson LH, Gregory RP, Mills KR, Morrison PJ, Hanna MGClinical, electrophysiological and molecular genetics studies in a new family with paramyotonia congenita. J Neurol Neurosurg Psychiatry . 2000;68:504-507.
9.
Meola G., Sansone V.Therapy in myotonic disorders and in muscle channelopathies. Neurol Sci. 2000;21:s953-s961.
10.
Alfonsi E., Merlo IM, Tonini M., et al. Efficacy of propafenone in paramyotonia congenita. Neurology. 2007;68:1080-1081.
