Ege Üniversitesi Tıp Fakültesi, Nöroloji ABD. nyü[email protected]

Keywords: Myotonic muscular dystrophy, clinical manifestations, muscle weakness, myotonia.


Myotonic muscular dystrophy (MMD) is the most common form of adult muscular dystrophy and is inherited as an autosomal dominant trait. Extreme variation of clinical expression between multiple members of each pedigree and apparent worsening of the disease in subsequent generations are the constant features of the disease. MMD has a wide variation in its age of onset and in the presenting signs and symptoms. In this study 32 MMD patients from 27 different pedigrees were prospectively evaluated. They were categorized into different subgroups on the basis of age of onset (congenital form, childhood-onset form, adultonset form). They were also separated into two groups according to maternal ar paternal inheritance. These groups were compared with each by using disability scores. No significant correlation was found between the disease duration and disability scores. The disability scores were significantly higher in adult-onset MMD patients than in the childhood onset ones. Myotonia, weakness of facial muscles, neck muscles and muscles of hand and ankle were the most common signs. Our clinical findings were discussed on the basis of recent literature.