[Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity].

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  • Author(s): Wu J;Wu J; Yi J; Zhu W; Yue D; Chen B
  • Source:
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jan 10; Vol. 41 (1), pp. 96-100.
  • Publication Type:
    English Abstract; Journal Article
  • Language:
    Chinese
  • Additional Information
    • Source:
      Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
    • Publication Information:
      Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
      Original Publication: Chengdu : Hua xi yi ke da xue,
    • Subject Terms:
      Myalgia*/genetics ; Muscle, Skeletal*; Humans ; Desmin/genetics ; Retrospective Studies ; Lower Extremity ; Mutation
    • 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.
    • Accession Number:
      0 (Desmin)
    • Publication Date:
      Date Created: 20240103 Date Completed: 20240105 Latest Revision: 20240105
    • Publication Date:
      20240105
    • Accession Number:
      10.3760/cma.j.cn511374-20221106-00765
    • Accession Number:
      38171567