Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant
Keywords:BICD2 Missense Variant, BICD2, Motor Neuron Disease, Spinal Muscular Atrophy with lower extremity dominance, SMALED2, Arthrogryposis multiplex congenita
Variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy with lower extremity dominance (SMALED2) which is characterized with lower extremity muscle weakness and atrophy. We describe a novel, heterozygous BICD2 variant (c.1661T>C, [p.Leu554Pro]) in a 21-month-old female patient with a more severe phenotypic presentation than the typical SMALED2 expression including arthrogryposis multiplex congenita, absent deep tendon reflexes, respiratory insufficiency, and cerebral depression. The variant p.Leu554Pro is located just outside of a domain that interacts with the motor protein KIF5A. The detailed neuro-phenotyping and clinical course presented here expand the understanding of BICD2 related disease.
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Copyright (c) 2023 Nahee Park BS, Michael M. Muriello MD, Donald Basel MD, Caroline A. Kielczewski MS, Matthew Harmelink MD
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