Diagnostic approach to the congenital muscular dystrophies

Bönnemann, C.; Wang, Ching C.H.; Quijano‐Roy, Susana; Deconinck, Nicolas; Bertini, Enrico; Ferreiro, Ana; Muntoni, Francesco; Sewry, C.; Béroud, Christophe; Mathews, Katherine D.; Moore, Steven A.; Bellini, Jonathan; Rutkowski, Anne; North, Klaus

doi:10.1016/j.nmd.2013.12.011

Cited by 295 publications

(255 citation statements)

References 147 publications

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“…Subsequently, similar imaging findings have been shown in muscle-eye-brain (MEB) disease [28]. Actually, the CMD spectrum covers a very broad and heterogeneous spectrum of disorders [30,31].…”

Section: Congenital Muscular Dystrophy Spectrumsupporting

confidence: 56%

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Poretti¹,

Toelle²,

Klein³

et al. 2015

Neuropediatrics

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Cerebellar cysts may be seen in selected genetic disorders and acquired anomalies. Here, we review our experience, excluding cystic tumors and parasitic cysts. The pathogenesis is heterogeneous: Cysts may involve/represent normal structures (e.g., Virchow-Robin spaces), be "destructive" (such as in some types of pontocerebellar hypoplasias), "malformative" (such as in some forms of congenital muscular dystrophies and GPR56-related migration disorders), or "disruptive" (such as in some cerebellar dysplasias). The provided checklist may be useful in deciding targeted diagnostic workup. Abstract Cerebellar cysts may be seen in selected genetic disorders and acquired anomalies. Here, we review our experience, excluding cystic tumors and parasitic cysts. The pathogenesis is heterogeneous: Cysts may involve/represent normal structures (e.g., Virchow-Robin spaces), be "destructive" (such as in some types of pontocerebellar hypoplasias), "malformative" (such as in some forms of congenital muscular dystrophies and GPR56-related migration disorders), or "disruptive" (such as in some cerebellar dysplasias). The provided checklist may be useful in deciding targeted diagnostic workup.

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Section: Congenital Muscular Dystrophy Spectrumsupporting

confidence: 56%

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Poretti¹,

Toelle²,

Klein³

et al. 2015

Neuropediatrics

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“…Mutations in dystroglycan itself result in the primary dystroglycanopathies (Henry & Campbell, 1998;Cote et al, 1999;Hara et al, 2011;Willer et al, 2014;Riemersma et al, 2015;Kanagawa et al, 2016). Secondary dystroglycanopathies are caused by interruption of a-dystroglycan-ligand interactions due to mutations in a growing list of genes [currently eighteen (Bonnemann et al, 2014)] encoding glycosyltransferases and accessory proteins responsible for a-dystroglycan's extensive posttranslational modifications (Muntoni et al, 2011;Inamori et al, 2012;Yoshida-Moriguchi et al, 2013). These include protein O-mannosyltransferase 1 (POMT1) and POMT2, which add O-linked mannose to a-dystroglycan (Manya et al, 2004;Willer et al, 2004), and like-acetylglucosaminyltransferase (LARGE), which is responsible for the addition of repeating xylose-glucuronic acid units on the O-mannosyl glycans on a-dystroglycan (Inamori et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss

Servián‐Morilla

Mavillard

Cantero-Nieto

et al. 2016

Neuromuscular Disorders

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Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in POGLUT1 (protein O-glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. In vitro and in vivo experiments demonstrated that the mutation reduces Oglucosyltransferase activity on Notch and impairs muscle development. Muscles from patients revealed decreased Notch signaling, dramatic reduction in satellite cell pool and a muscle-specific adystroglycan hypoglycosylation not present in patients' fibroblasts. Primary myoblasts from patients showed slow proliferation, facilitated differentiation, and a decreased pool of quiescent PAX7 + cells. A robust rescue of the myogenesis was demonstrated by increasing Notch signaling. None of these alterations were found in muscles from secondary dystroglycanopathy patients. These data suggest that a key pathomechanism for this novel form of muscular dystrophy is Notch-dependent loss of satellite cells.

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“…Clinical signs included weakness and hypotonia or contractures at birth or in the first months, but as in some CMD variants (e.g., Ullrich CMD), the onset can be delayed. [6][7][8] All patients with a potential neuromuscular disorder, with weakness and/or increased creatine kinase (CK) serum levels, are referred to a tertiary care center for further testing. Because all the Italian tertiary care centers for pediatric and adult neuromuscular disorders participated in this study, we are therefore likely to have included all the patients who have undergone a diagnostic process for CMD.…”

mentioning

confidence: 99%

Prevalence of congenital muscular dystrophy in Italy

et al. 2015

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Objective: We provide a nationwide population study of patients with congenital muscular dystrophy in Italy.Methods: Cases were ascertained from the databases in all the tertiary referral centers for pediatric neuromuscular disorders and from all the genetic diagnostic centers in which diagnostic tests for these forms are performed. Results:The study includes 336 patients with a point prevalence of 0.563 per 100,000. Mutations were identified in 220 of the 336 (65.5%). The cohort was subdivided into diagnostic categories based on the most recent classifications on congenital muscular dystrophies. The most common forms were those with a-dystroglycan glycosylation deficiency (40.18%) followed by those with laminin a2 deficiency (24.11%) and collagen VI deficiency (20.24%). The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively). Conclusions:Our study provides for the first time comprehensive epidemiologic information and point prevalence figures for each of the major diagnostic categories on a large cohort of congenital muscular dystrophies. The study also reflects the diagnostic progress in this field with an accurate classification of the cases according to the most recent gene discoveries. The term congenital muscular dystrophy (CMD) classically includes a group of genetically, clinically, and biochemically distinct entities sharing clinical and pathologic features such as early presentation of weakness and hypotonia and dystrophic features on muscle biopsy. 1 The rapidly increasing identification of several genes responsible for different forms of CMD has dramatically expanded the spectrum of the known forms, allowing a better understanding of the individual forms and different underlying pathomechanisms. 2 The incidence and prevalence of CMD in populations is not sufficiently known with only a few studies reporting incidence or point prevalence in relatively small regions. 3-5 Furthermore, several new genes have only been described in the last few years and the subtyping and classification in those reports is therefore not updated.

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Diagnostic approach to the congenital muscular dystrophies

Cited by 295 publications

References 147 publications

Cerebellar Cysts in Children: A Pattern-Recognition Approach

Cerebellar Cysts in Children: A Pattern-Recognition Approach

A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss

Prevalence of congenital muscular dystrophy in Italy

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