kennedy disease is a rare x-linked neurodegenerative disorder that affects patients in 30-50 years of age. it is caused by cag-repeat in androgen receptor gen. there is no known effective treatment for kennedy disease. we report a 60-year-old man who had fasciculations and proximal and distal muscle weakness. physical examination showed involvement of the bulbar musculature accompanied by tongu...

ulrich congenital muscular dystrophy is an autosomal recessive disorder of collagen type vi-related disorders. this condition presents with early onset proximal joint contractures, muscle weakness and hyperelasticity of the distal joints. prominent calcanei are common. muscle weakness is so profound that children never achieve the ability to walk independently or walk for only short periods. se...