A Case of Wohlfart-Kugelberg-Welander Syndrome in Korean Sister

ABSTRACT

Wohlfart et al and then Kugelberg and Welander were concerned with patients suffering from proximal limb weakness that resembled muscular dystrophy, but the muscle biopsy and EMG indicated neuronal disease. However, several reports had determined considerable variation according to age of onset, distribution of weakness and rate of progression. Most of familial cases fit an autosomal recessive pattern but dominant and X-linked forms were recorded. The syndrome is recognized by clinical criteria and laboratory abnormalities only that reflect neuronal degeneration. It merges with Werdnig-Hoffmann disease in infant and with amyotrophic lateral sclerosis in adult and with Wohlfart-Kugelberg-Welander syndrome in adolescent. In this report we respresent a case which is probably Wohlfart-Kugelberg-Welander syndrome in Korean sister.