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

Magri, Francesca; Nigro, Vincenzo; Angelini, C.; 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, S.; Minetti, Carlo; Morandi, Lucia; Savarese, Marco; Fruscio, Giuseppina Di; Semplicini, Claudio; Pegoraro, Elena; Govoni, Alessandra; Brusa, Roberta; Bo, Roberto Del; Ronchi, Dario; Moggio, Maurizio; Bresolin, Nereo; Comi, Giacomo Pietro

doi:10.1002/mus.25192

Cited by 86 publications

(124 citation statements)

References 31 publications

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“…Collectively, the sarcoglycanopathies are among the most common LGMDs worldwide,3 representing the third most common form in Italy,19 and definitely one of the most severe. LGMD2D is generally the most common, followed by LGMD2C, while LGMD2F is the rarest 3.…”

Section: Discussionmentioning

confidence: 99%

MRI in sarcoglycanopathies: a large international cohort study

Tasca

Monforte

Díaz‐Manera

et al. 2017

J Neurol Neurosurg Psychiatry

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Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.

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Section: Discussionmentioning

confidence: 99%

MRI in sarcoglycanopathies: a large international cohort study

Tasca

Monforte

Díaz‐Manera

et al. 2017

J Neurol Neurosurg Psychiatry

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“…The prevalence of sarcoglycanopathy varies greatly among different subtypes and ethnic backgrounds. It has been reported that sarcoglycanopathy ranks third among limb‐type muscular dystrophy in Italy …”

Section: Discussionmentioning

confidence: 99%

Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins

Song

et al. 2019

Neuropathology

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Limb‐girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the α‐sarcoglycan gene (SGCA). Due to lack of specificity, it is impossible to identify LGMD2D only by clinical symptoms and conventional immunohistochemical staining. The loss of any protein (α‐, β‐, γ‐, δ‐sarcoglycan) that represent sarcoglycanopathy may cause reduction or absence of the other three proteins. Here, we report a patient with a complete loss of all the four proteins. Next generation sequencing (NGS) results showed a missense mutation (C.218 C > T) and a partial heterozygous deletion containing exons 7 and 8 of SGCA, which led to the final diagnosis of the patient. The discovery of this new mutation could broaden the spectrum of SGCA mutations, which may be associated with putative LGMD2D, especially when all the four proteins are completely missing.

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“…Clinical manifestations can vary across subtypes. Few LGMDs present as congenital disorders; symptoms of LGMD most often occur in early childhood, adolescence, and into adulthood . Presenting symptoms can include myoglobinuria and hyperCKemia.…”

Section: Introductionmentioning

confidence: 99%

Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most

et al. 2019

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Introduction Limb‐girdle muscular dystrophy (LGMD) consists of over 30 genetic conditions with varying clinical phenotypes primarily affecting pelvic girdle, shoulder girdle, and other proximal limb muscles. Studies focusing on the physical, mental, and social effects of this disease from the patient's perspective are limited. Methods Adults with LGMD were interviewed and asked to identify issues that have the greatest impact on their quality of life. Each interview was recorded, transcribed, coded, and analyzed. Results Participants provided 1385 direct quotes. One hundred sixty‐five potential symptoms of importance were identified and grouped into 15 larger themes. The most frequently reported themes included limitations with mobility, difficulty performing activities, social role limitations, and emotional distress. Discussion There are multiple symptoms that alter the lives of adults with LGMD. These affect their physical, emotional, and social health, and may be amenable to medical intervention.

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

Cited by 86 publications

References 31 publications

MRI in sarcoglycanopathies: a large international cohort study

MRI in sarcoglycanopathies: a large international cohort study

Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins

Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most

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