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

Enzo Ricci, Giorgio Tasca, Mauro Monforte, Francesca Magri, Vincenzo Nigro, Corrado Angelini, Tiziana Mongini, Marina Mora, Isabella Moroni, Antonio Toscano, Maria Grazia D'Angelo, Giuliano Tomelleri, Gabriele Siciliano, Giulia Ricci, Claudio Bruno, Stefania Corti, Olimpia Musumeci, Monica Sciacco, Chiara Fiorillo, Sandra GandossiniCarlo Minetti, Lucia Morandi, Marco Savarese, Giuseppina Di Fruscio, Claudio Semplicini, Elena Pegoraro, Alessandra Govoni, Roberta Brusa, Roberto Del Bo, Dario Ronchi, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

42 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)55-68
Numero di pagine14
RivistaMUSCLE & NERVE
Volume55
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • Cellular and Molecular Neuroscience
  • Neurology (clinical)
  • Physiology
  • Physiology (medical)
  • differential diagnosis
  • genotype–phenotype correlations
  • limb girdle muscular dystrophy
  • natural history
  • next-generation sequencing

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