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A Case Report of Schwartz - Jampel Syndrome

Schwartz Jampel syndrome or chondrodystrophic myotonia is an autosomal recessive syndrome, that is presented with stiffness, short stature, muscular hypertrophy and severe voluntary and percussion myotonia. In this report a 6 ylo boy from Tabriz is Presented who developed slow movement and gait distrubances since infancy. On exam he had facial dysmorphism, low set ears, thightness in achille and hamstrings and muscle stiffness. In electrodiagnostic study, motor and sensory NCS was within the normal range, and RST was normal. On needle EMG examination continuous, spontaneous high frequency electrical discharges (neuromyotonia) were observed in some muscles of lower limbs and face. Mild improvement was seen with carbamazepin.