A 7-year-old girl presented with complaints of frequent falls for the past 3 years. She achieved unsupported sitting at 8 months, crawling at 9 months, standing at 11 months, walking at 15 months, running at 20 months. At 3 years of age, she could climb up and down stairs, two steps at a time, dress herself completely including buttoning, feed herself, go to toilet, knew own full name, as well as names of family members and played in a group. After that she had frequent falls, initially while running and it progressed to during walking also over a period of the next 1 year. She had difficulty in getting up from a sitting position and used to climb up with the support on her own legs. At 7 years of age, she was able to walk without support but could not run and climbed stairs with the support of railings. She was born to non-consanguineous parents and her family history was unremarkable. There was no history of feeding and respiratory difficulties.
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