Abstract
Out-toeing is one of the most common gait disturbances in children that cause parents to seek medical advice from their doctor. Spinal muscular atrophy (SMA) type III usually presents with an abnormal gait like waddling. The key to an accurate diagnosis of SMA type III is a careful history including subtle motor milestones. We report a 10 year-old-girl with SMA type IIIa presenting with abnormal gait. Past medical history revealed that the patient had been admitted to the department of orthopedic surgery for out-toeing and delayed walking at the age of 6. She had been diagnosed as flat foot and treated with modified shoes for 4 years. On admission, she had waddling gait, Gowers sign and fasciculation in her tongue. The creatine kinase was 462 U/L (N: 5-130 U/L). The electromyogram showed signs of anterior horn cell disease. She had had deletion of exon 7 of SMN gene. Any information about delayed walking obtained from the medical history of a patient with out-toeing related flat foot should alert the physician to diagnose a neuromuscular disease like SMA type IIIa.
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