The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

F. Magri, V. Nigro, C. Angelini, T. Mongini, M. Mora, I. Moroni, A. Toscano, M.G. D'angelo, G. Tomelleri, Gabriele Siciliano, G. Ricci, Claudio Bruno, S. Corti, Olimpia1 Musumeci, G. Tasca, E. Ricci, Mauro Monforte, M. Sciacco, C. Fiorillo, S. GandossiniC. Minetti, L. Morandi, M. Savarese, Giuseppina Di Fruscio, Claudio Semplicini, E. Pegoraro, Alessandra Govoni, R. Brusa, R. Del Bo, D. Ronchi, M. Moggio, N. Bresolin, G.P. Comi

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes. Methods: We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. Results: LGMD types 2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases. Conclusion: Detailed clinical characterization combined with muscle tissue analysis is fundamental to guide differential diagnosis and to address molecular tests. NGS is useful for diagnosing forms without specific biomarkers, although, at least in our study cohort, several LGMD disease mechanisms remain to be identified. Muscle Nerve 55: 55–68, 2017. © 2016 Wiley Periodicals, Inc.
Original languageEnglish
Pages (from-to)55-68
Number of pages14
JournalMuscle and Nerve
Volume55
Issue number1
DOIs
Publication statusPublished - Oct 28 2016

Keywords

  • differential diagnosis
  • genotype–phenotype correlations
  • limb girdle muscular dystrophy
  • natural history
  • next-generation sequencing

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