Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

Abstract

We describe a 21-year-old woman with lower extremity spasticity, dystonia, and weakness. She was born full term without complications. At 5 years of age, she began dragging her right foot, which slowly progressed to bilateral toe walking and a wide-based stance. By 14 years of age, she walked with her legs in a fixed posture with knees extended, and by 21 years of age, she was unable to stand unassisted. Family reported an intermittent hand action tremor and large "jerks" of her legs in the evening. They also noticed intermittent slurred speech that was difficult to understand. She reported occasional tingling in her fingers and toes. She completed the 5th grade, but schooling was eventually stopped because of learning difficulties. There is no family history of similar problems or consanguinity. Neurologic examination showed scanning and slurred speech, decreased strength and spasticity in the lower extremities, and a mild, low-Amplitude, high-frequency terminal action tremor of both hands. Reflexes were increased at the knees (grade 3) with upgoing plantar responses, and there was decreased vibration and proprioception sensation at the toes. Upon standing, she had dystonic posturing of bilateral lower extremities.