Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs

Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs

Background. Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal dominant disorder. Since SMA-LED affects lower motor neurons, the disease is characterized by weakness and atrophy of lower limb muscles. We present a familial case series of SMA-LED with upper mot...

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Bibliographic Details
Main Authors: Jessica Lee, Philip Millington, Kavinda Dayasiri, Sithara Ramdas, Sandeep Jayawant, Geetha Anand
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2023-06-01
Series:The Turkish Journal of Pediatrics
Subjects:
spinal muscular atrophy with lower extremity predominance
upper motor neuron signs
Online Access:https://turkjpediatr.org/article/view/59
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