Premium
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Author(s) -
Magri Francesca,
Nigro Vincenzo,
Angelini Corrado,
Mongini Tiziana,
Mora Marina,
Moroni Isabella,
Toscano Antonio,
D'angelo Maria Grazia,
Tomelleri Giuliano,
Siciliano Gabriele,
Ricci Giulia,
Bruno Claudio,
Corti Stefania,
Musumeci Olimpia,
Tasca Giorgio,
Ricci Enzo,
Monforte Mauro,
Sciacco Monica,
Fiorillo Chiara,
Gandossini Sandra,
Minetti Carlo,
Morandi Lucia,
Savarese Marco,
Fruscio Giuseppina Di,
Semplicini Claudio,
Pegoraro Elena,
Govoni Alessandra,
Brusa Roberta,
Del Bo Roberto,
Ronchi Dario,
Moggio Maurizio,
Bresolin Nereo,
Comi Giacomo Pietro
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25192
Subject(s) - limb girdle muscular dystrophy , differential diagnosis , medicine , muscular dystrophy , disease , neuromuscular disease , retrospective cohort study , pathology , bioinformatics , mutation , biology , genetics , gene
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