Clinical Reasoning: Seven-year-old girl with progressive gait difficulties

A 7-year-old girl from a middle eastern country was referred for progressive gait difficulties. She was born full-term. She was able to run, climb stairs, and keep up with other children until age 6. She began to hyperextend her right knee and evert her right foot while walking, leading to falls, and her symptoms progressed to the left leg in about 6 months. Within 1 year after symptom onset, she was no longer able to walk independently. There was no diurnal variation of her symptoms. There was some decline in language and cognitive functions. Her parents were first cousins and 3 of her mother’s sisters and 1 brother had gait difficulty beginning in their teens, which worsened; all of them used assistive devices. The parents and the patient’s 3 siblings (younger and older) were unaffected.

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