• Rigid spine muscular dystrophy type1 presenting with neck tilt

    14 days ago - By The Journal of Pediatrics

    A 3-year-old girl presented with intermittent left sided neck tilt since the age of 9 months. She is the first born to second degree consanguineously married parents, with normal antenatal and perinatal history. She has mild gross motor delay with preserved social and language milestones. She is a slow runner and falls frequently while running. She also takes support to sit from lying down position. On examination, she has intermittent left sided torticollis. There are no dysmorphic features.
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