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Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation

A 5-year-old girl was evaluated for arthrogryposis. She was born at 34 weeks complicated by polyhydramnios and reduced fetal movements. She had symmetric growth parameters at birth. She had respiratory distress after birth requiring intubation, feeding difficulties and aspirations requiring nasojejunal feeding and subsequently gastrostomy tube, and stridor, for which she underwent supraglottoplasty. She had bilateral talipes equinovarus at birth and underwent surgical correction at 9 months. There were also mild contractures of the wrists, which did not require surgical interventions. She had paucity of facial movements, ptosis, and hypotonia noticed after birth. She had delayed motor milestones and was always slower compared to other children in terms of walking, running, and climbing stairs. She needed to hold on to the railing while climbing stairs and support to get up from the floor. She was mostly gastrostomy tube fed. She tired easily with physical activities and there was history of diurnal fluctuation of her ptosis. Her social and cognitive functions were grossly intact. Parents were first cousins and there was no family history of similar disorder. On examination, she had vertical and horizontal ophthalmoparesis, bilateral ptosis and frontalis overactivity, marked facial weakness (open mouth), high-arched palate, nasal dysarthria, proximal limb weakness, and 1–2+ tendon reflexes.

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