Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity
10.3760/cma.j.cn511374-20221106-00765
- VernacularTitle:以下肢活动后肌痛起病的结蛋白病患者1例的临床及遗传学研究
- Author:
Jibao WU
1
;
Jiping YI
;
Wenhua ZHU
;
Dongyue YUE
;
Bin CHEN
Author Information
1. 南华大学附属郴州医院神经内科，郴州市第一人民医院神经医学研究所，郴州 423000
- Keywords:
Desminnopathy;
Myofibril disease;
DES gene;
Distal myopathy
- From:
Chinese Journal of Medical Genetics
2024;41(1):96-100
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and genetic variant of a patient with desminopathy manifesting with atypical symptoms.Methods:A patient who was admitted to the Department of Neurology of Jing′an District Central Hospital on February 24, 2021 was selected as the study subject. Clinical data, laboratory tests, muscle pathology, muscle magnetic resonance imaging (MRI) and genetic testing of the patient were retrospectively analyzed.Results:The patient had developed myalgia after lower limb activity, and gradually developed asymmetrical muscle weakness and atrophy of the lower limbs. Cardiac examination revealed atrioventricular block and decreased left ventricular diastolic function. Muscle MRI showed that semitendinosus, sartorius, gracilis, fibula, gastronemius and supinator muscles were selectively involved at the early stage. Muscle biopsy confirmed pathological changes of desmin positive myofibrils. Genetic testing revealed that the patient has harbored a c. 1024A>G (p.n342d) missense variant in exon 6 of the DES gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PS4_moderate+ PM2_supporting+ PP3_moderate+ PP1). Conclusion:Desmin disease has a great clinical heterogeneity. Postexercise myalgia of lower limbs is a rare clinical phenotype. For patients harboring the c. 1024A>G (p.n342d) variant of the DES gene, in addition to semitendinosus and fibula, Cardiac involvement is relatively insidious and easy to be ignored in clinic. Timely muscle MRI, muscle biopsy and gene detection will help the early diagnosis of the disease.
