Limb-Girdle Muscular Dystrophy Type 2A (Calpainopathy) with Axial Muscle Weakness Mimicking Spondyloarthropathy: A Case Report
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Limb–girdle muscular dystrophy (LGMD) is a hereditary myopathy characterized by weakness and wasting of pelvic girdle musculature. Herein, we report the case of a 51-year-old man with an unremarkable past medical history who presented with insidious onset of weakness in his back and proximal lower extremities. Clinical findings and electrodiagnostic tests were consistent with myopathy. Exome sequencing detected a mutation in calpain-3 (CAPN3), which confirmed the diagnosis of LGMD 2A. Through a review of less typical case of LGMD 2A, we confirmed that the severity and onset of symptoms may vary according to the quantity of CAPN3 expressed in patients with mutations in CAPN3.
Abstract
Limb–girdle muscular dystrophy (LGMD) is a hereditary myopathy characterized by weakness and wasting of pelvic girdle musculature. Herein, we report the case of a 51-year-old man with an unremarkable past medical history who presented with insidious onset of weakness in his back and proximal lower extremities. Clinical findings and electrodiagnostic tests were consistent with myopathy. Exome sequencing detected a mutation in calpain-3 (CAPN3), which confirmed the diagnosis of LGMD 2A. Through a review of less typical case of LGMD 2A, we confirmed that the severity and onset of symptoms may vary according to the quantity of CAPN3 expressed in patients with mutations in CAPN3.
참고문헌 (11)
- Dumitru D, "Electrodiagnostic medicine" (2002), Hanley & Belfus
- Pegoraro E, "GeneReviews®" (2018), University of Washington
- van der Kooi AJ, "The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands", Brain, 119, pp.1471~1480 (1996)
- Richard I, "As STS map of the limb girdle muscular dystrophy type 2A region", Mamm Genome, 6, pp.754~756 (1995)
- 신진홍, "Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy", Journal of Korean Medical Science, 22(3), pp.463~469 (2007), 대한의학회
- 최영철, "Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations", Yonsei Medical Journal, 57(1), pp.173~179 (2016), 연세대학교의과대학[DOI]
- Angelini C, "The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)", Neurol Res, 32, pp.41~46 (2010)
- Angelini C, "GeneReviews®" (2018), University of Washington
- Urtasun M, "Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)", Brain, 121, pp.1735~1747 (1998)
- Liewluck T, "Late-onset axial myopathy and camptocormia in a calpainopathy carrier", J Clin Neuromuscul Dis, 13, pp.209~213 (2012)
- Fanin M, "Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: the yield and the pitfalls", Muscle Nerve, 52, pp.163~173 (2015)