Myotonic muscular dystrophy with bilateral uveitis and swan neck deformity of fingers

ABSTRACT

Myotonic muscular dystrophy [MMD] is a heredofamilial disease with multi-system involvement. In particular, it involves the skeletal muscles [as well as cardiac and smooth muscles], eye, cranial bones and the endocrine system, while other organs such as the gastrointestinal system,skin, and respiratory system are less frequently involved [1,2]. The disease is inherited in an autosomal dominant manner with complete penetrance and highly variable expression.It has a prevalence rate of 3-5/100,000 [2,4]. The symptoms appear from birth to 60 years of age [the majority in the second decade of life] [4,5]. In the large series of 67 cases presented by Pruzanski [1],males comprised 61% of the cases while in other series male to female ratios have been 15 [6] and 11 [7]. The patient reported below suffered from progressive HMD. In addition, during the course of his disease he developed bilateral uveitis and severe swan neck deformity of all fingers both of which have not been reported in English literature in association with MMD