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

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, Giorgio Tasca, Enzo Ricci, Mauro Monforte, 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

Research output: Contribution to journalArticle

32 Citations (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.

Original languageEnglish
Pages (from-to)55-68
Number of pages14
JournalMuscle and Nerve
Volume55
Issue number1
DOIs
Publication statusPublished - Jan 2017

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Limb-Girdle Muscular Dystrophies
Registries
Differential Diagnosis
Biomarkers
Muscles
Muscular Diseases
Age of Onset
Italy
Cohort Studies
Mutation

Keywords

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Creatine Kinase
  • Diagnosis, Differential
  • Female
  • Genetic Association Studies
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Muscle Proteins
  • Muscle, Skeletal
  • Muscular Dystrophies, Limb-Girdle
  • Registries
  • Respiration Disorders
  • Statistics, Nonparametric
  • Young Adult
  • Journal Article

Cite this

Magri, F., Nigro, V., Angelini, C., Mongini, T., Mora, M., Moroni, I., ... Comi, G. P. (2017). The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. Muscle and Nerve, 55(1), 55-68. https://doi.org/10.1002/mus.25192

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

In: Muscle and Nerve, Vol. 55, No. 1, 01.2017, p. 55-68.

Research output: Contribution to journalArticle

Magri, F, Nigro, V, Angelini, C, Mongini, T, Mora, M, Moroni, I, Toscano, A, D'angelo, MG, Tomelleri, G, Siciliano, G, Ricci, G, Bruno, C, Corti, S, Musumeci, O, Tasca, G, Ricci, E, Monforte, M, Sciacco, M, Fiorillo, C, Gandossini, S, Minetti, C, Morandi, L, Savarese, M, Fruscio, GD, Semplicini, C, Pegoraro, E, Govoni, A, Brusa, R, Del Bo, R, Ronchi, D, Moggio, M, Bresolin, N & Comi, GP 2017, 'The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis', Muscle and Nerve, vol. 55, no. 1, pp. 55-68. https://doi.org/10.1002/mus.25192
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. / The italian limb girdle muscular dystrophy registry : Relative frequency, clinical features, and differential diagnosis. In: Muscle and Nerve. 2017 ; Vol. 55, No. 1. pp. 55-68.
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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.",
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AU - Magri, Francesca

AU - Nigro, Vincenzo

AU - Angelini, Corrado

AU - Mongini, Tiziana

AU - Mora, Marina

AU - Moroni, Isabella

AU - Toscano, Antonio

AU - D'angelo, Maria Grazia

AU - Tomelleri, Giuliano

AU - Siciliano, Gabriele

AU - Ricci, Giulia

AU - Bruno, Claudio

AU - Corti, Stefania

AU - Musumeci, Olimpia

AU - Tasca, Giorgio

AU - Ricci, Enzo

AU - Monforte, Mauro

AU - Sciacco, Monica

AU - Fiorillo, Chiara

AU - Gandossini, Sandra

AU - Minetti, Carlo

AU - Morandi, Lucia

AU - Savarese, Marco

AU - Fruscio, Giuseppina Di

AU - Semplicini, Claudio

AU - Pegoraro, Elena

AU - Govoni, Alessandra

AU - Brusa, Roberta

AU - Del Bo, Roberto

AU - Ronchi, Dario

AU - Moggio, Maurizio

AU - Bresolin, Nereo

AU - Comi, Giacomo Pietro

N1 - © 2016 Wiley Periodicals, Inc.

PY - 2017/1

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N2 - 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.

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KW - Genetic Association Studies

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KW - Italy

KW - Male

KW - Middle Aged

KW - Muscle Proteins

KW - Muscle, Skeletal

KW - Muscular Dystrophies, Limb-Girdle

KW - Registries

KW - Respiration Disorders

KW - Statistics, Nonparametric

KW - Young Adult

KW - Journal Article

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