Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant

Authors

  • Nahee Park, BS Medical College of Wisconsin, Milwaukee, WI
  • Michael M. Muriello, MD Medical College of Wisconsin, Milwaukee, WI; Dept of Pediatrics, Section of Medical Genetics, Medical College of Wisconsin, Milwaukee, WI
  • Donald Basel, MD Medical College of Wisconsin, Milwaukee, WI; Dept of Pediatrics, Section of Medical Genetics, Medical College of Wisconsin, Milwaukee, WI
  • Caroline A. Kielczewski, MS Medical College of Wisconsin, Milwaukee, WI; Dept of Pediatrics, Section of Medical Genetics, Medical College of Wisconsin, Milwaukee, WI
  • Matthew Harmelink, MD Medical College of Wisconsin, Milwaukee, WI; Dept of Neurology, Section of Child Neurology, Medical College of Wisconsin, Milwaukee, WI

DOI:

https://doi.org/10.17161/rrnmf.v4i1.17002

Keywords:

BICD2 Missense Variant, BICD2, Motor Neuron Disease, Spinal Muscular Atrophy with lower extremity dominance, SMALED2, Arthrogryposis multiplex congenita

Abstract

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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Published

2023-02-07

How to Cite

Park, N., Muriello, M. ., Basel, D., Kielczewski, C., & Harmelink, M. (2023). Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant. RRNMF Neuromuscular Journal, 4(1), 34–41. https://doi.org/10.17161/rrnmf.v4i1.17002

Issue

Section

Clinic Stuff (Case Reports)