Limb-girdle muscular dystrophy type 2A with normal Calpain-3 expression caused by a homozygous mutation in CAPN3 gene:one case report
YANG Yu-fang
LIANG Tao
SHI Chao
YAN Lin-lin
XU Zu-cai
LUO Zhong
Abstract：A male patient, 24 years old, was admitted to the hospital on November 1, 2024, due to progressive weakness in all four limbs for 9 years. The patient developed limb weakness without obvious cause 9 years ago (June 2015), with the initial symptom being difficulty climbing stairs and rising from a squatting position. The condition gradually involved both upper limbs, causing difficulty in lifting the arms and performing actions such as washing hair and hanging. The symptoms progressively worsened, leading to atrophy of proximal muscles in all four limbs and scapular muscles, with prominent winged scapulae, a waddling gait, no foot drop or toe walking, no chest tightness or breathing difficulties, no dysphagia or choking while drinking water, no muscle pain or joint pain, and no cognitive dysfunction. The patient did not receive regular treatment, and the symptoms continued to worsen.
Keywords：Muscular dystrophieslimb-girdleCalpainGenesMutationCase reports
Publication Date：2025-11-25
Online Publishing Date：2025-12-16(First online date of this platform, not the publication date of the document)
Pages：6( 1040-1045 )