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Published: 2023-01-31
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DOI: https://doi.org/10.52852/tcncyh.v162i1.1356
Issue
Vol. 162 No. 1 (2023)
Section
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Nam Chung, T., Văn Hùng, N. ., & Vân Khánh, T. (2023). 19. Initial study on clinical, sub-clinical symptoms and gene defect in limb-girdle muscular dystrophy (lgmd). Journal of Medical Research, 162(1), 169-177. https://doi.org/10.52852/tcncyh.v162i1.1356

19. Initial study on clinical, sub-clinical symptoms and gene defect in limb-girdle muscular dystrophy (lgmd)

Tran Nam Chung, Nguyen Van Hung, Tran Van Khanh

Main Article Content

Abstract

This study reported the clinical, sub-clinical characteristics and gene defects in patients with Limb-Girdle muscular dystrophy (LGMD). Between January 2019 and September 2022, 12 patients were diagnosed with LGMD at E hospital and Bach Mai hospital based on Bushby criteria 1996. The average age 27.3 ± 13.2 years (range: 8 - 53); the average age at diagnosis was 28.3 ± 13.1; and age of onset ranged between 7 - 49 years old. All patients had muscle weakness or muscle atrophy in upper limb-girdle area (100%) and lower limb-girdle area (91.7%). Most patients (75%) had onset of LGMD in the shoulder girdle. Only 5 patients (41.7%) were diagnosed 5 years before disease onset. Defect was identified in genes LGMD R3, R5, and D4. LGMD is a rare diseases, with varied age of onset, and mostly occurs in adults. Patients with symptoms of muscle weakness and atrophy of the limb region are often diagnosed late. New generation gene sequencing can enable early detection of disease by identifying key gene mutations.

Article Details

Keywords

Muscle weakness, muscular atrophy, muscular dystrophy, limb girdle, gene defect

References

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