Abstract
Introduction
POMT2-related limb girdle muscular dystrophy (LGMDR14) is a rare muscular dystrophy
caused by mutations in the POMT2 gene. Thus far only 26 LGMDR14 subjects have been reported and no longitudinal natural
history data are available.
Case report
We describe two LGMDR14 patients followed for 20 years since infancy. Both patients
presented a childhood-onset, slowly progressive pelvic girdle muscular weakness leading
to loss of ambulation in the second decade in one patient, and cognitive impairment
without detectable brain structural abnormalities. Glutei, paraspinal, and adductor
muscles were the primarily involved muscles at MRI.
Discussion
This report provides natural history data on LGMDR14 subjects, with a focus on longitudinal
muscle MRI. We also reviewed the LGMDR14 literature data, providing information on
the LGMDR14 disease progression. Considering the high prevalence of cognitive impairment
in LGMDR14 patients, a reliable application of functional outcome measures can be
challenging, therefore a muscle MRI follow-up to assess disease evolution is recommended.
Keywords
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Article info
Publication history
Published online: February 14, 2023
Accepted:
January 31,
2023
Received in revised form:
January 29,
2023
Received:
December 24,
2022
Identification
Copyright
© 2023 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology.
