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An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene

A male child of South‐Asian descent, the first issue of a nonconsanguineous union, presented to us at 10.5 years age. The child was born full term, without any significant perinatal… Click to show full abstract

A male child of South‐Asian descent, the first issue of a nonconsanguineous union, presented to us at 10.5 years age. The child was born full term, without any significant perinatal red flags. Frequent falls and gait instability were first noted at 2 years of age. The child also had history of poor grip over footwear, bilaterally, suggesting distal symmetrical weakness of the lower limbs. He gained the subsequent motor milestones with delay of 8–10 months. He did not achieve urinary or stool continence. There were no hearing or visual deficits, although he was noted to have convergent squint at 3 years of age. The distal‐predominant weakness had a chronic progressive course to gradually involve the hand grip too, over the next 1 year. Further worsening of symptoms was noted at 9 years, following an intercurrent illness, to involve the proximal upper and lower limbs. He was now unable to lift his hand over the shoulders or get up from squatting position. The squint was noted to worsen too. At 10 years, following an episode of acute diarrheal illness, he regressed further. He was subsequently unable to self‐feed, climb stairs or walk unassisted. Since the last 2 months, the child reported feeding and swallowing difficulties. Throughout the course, there were no seizures or sensory symptoms.

Keywords: child condsias; years age; indian child; child; due novel; condsias due

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2022

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