Cardiac and Pulmonary Investigations in Bethlem Myopathy

Kooi, Anneke J. van der; Voogt, Willem G. de; Bertini, Enrico; Merlini, Luciano; Talim, F. Beril; Yaou, Rabah Ben; Urtziberea, Andoni; Visser, Marjolein

doi:10.1001/archneur.63.11.1617

Cited by 35 publications

(26 citation statements)

References 25 publications

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“…In a recent study, nearly 50% of still-ambulatory patients suffered from respiratory insufficiency, a distinct difference from Duchenne muscular dystrophy in which respiratory failure typically follows loss of ambulation (Nadeau et al, 2009). Similarly, 16% of patients with Bethlem myopathy, all of whom were still ambulatory, had a forced vital capacity that was less than 70% of the predicted value (van der Kooi et al, 2006). These studies suggest that the earlier development of respiratory insufficiency in disorders due to COL6 mutations might reflect loss of pulmonary compliance in addition to compromise of muscles of respiration.…”

Section: In Cultured Anxa2mentioning

confidence: 99%

Annexin A2 mediates collagen VI secretion, pulmonary elasticity, and bronchial epithelial cell apoptosis

Dassah

Almeida

Hahn

et al. 2013

Journal of Cell Science

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Section: In Cultured Anxa2mentioning

confidence: 99%

Annexin A2 mediates collagen VI secretion, pulmonary elasticity, and bronchial epithelial cell apoptosis

Dassah

Almeida

Hahn

et al. 2013

Journal of Cell Science

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“…Progression is slow and occasionally results in the patient being wheelchair-bound after 25 to 40 years [36]. Respiratory failure can be part of the clinical spectrum and may even occur in ambulatory patients [57]. To date there has been no evidence of cardiac involvement in Bethlem myopathy [57].…”

Section: Bethlem Myopathymentioning

confidence: 99%

“…Respiratory failure can be part of the clinical spectrum and may even occur in ambulatory patients [57]. To date there has been no evidence of cardiac involvement in Bethlem myopathy [57].…”

Section: Bethlem Myopathymentioning

confidence: 99%

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

et al. 2009

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Congenital and adult-onset inherited myopathies represent a wide spectrum of syndromes. Classification is based upon clinical features and biochemical and genetic defects. Joint hypermobility is one of the distinctive clinical features that has often been underrecognized so far. We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital muscular dystrophy, Bethlem myopathy, congenital muscular dystrophy with joint hyperlaxity, multi-minicore disease, central core disease, and limb girdle muscular dystrophy 2E with joint hyperlaxity and contractures. We shortly discuss a second group of disorders characterised by both muscular features and joint hypermobility: the inherited disorders of connective tissue Ehlers-Danlos syndrome and Marfan syndrome. Furthermore, we will briefly discuss the extent and pattern of joint hypermobility in these myopathies and connective tissue disorders and propose two grading scales commonly used to score the severity of joint hypermobility. We will conclude focusing on the various molecules involved in these disorders and on their role and interactions in muscle and tendon, with a view to further elucidate the pathophysiology of combined hypermobility and myopathy. Hopefully, this review will contribute to enhanced recognition of joint hypermobility and thus be of aid in differential diagnosis.

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“…6 There is no evidence of cardiac involvement in BM. 7 Respiratory failure is part of the clinical spectrum and can occur in ambulatory patients. 7 Ullrich congenital muscular dystrophy is an autosomal recessive severe disorder characterized by congenital muscle weakness with axial and proximal joint contractures and coexisting distal joint hypermobility.…”

Section: Introductionmentioning

confidence: 99%

“…7 Respiratory failure is part of the clinical spectrum and can occur in ambulatory patients. 7 Ullrich congenital muscular dystrophy is an autosomal recessive severe disorder characterized by congenital muscle weakness with axial and proximal joint contractures and coexisting distal joint hypermobility. 8 The presentation is usually at birth, with hypotonia, congenital hip dislocation, prominent calcanei, and a transient kyphotic deformity.…”

Section: Introductionmentioning

confidence: 99%

Therapy of Collagen VI-Related Myopathies (Bethlem and Ullrich)

Merlini

Bernardi

2008

Neurotherapeutics

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Summary:The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory compromise. Specific diagnosis requires molecular genetic testing showing mutation in one of the three genes involved. This review summarizes current treatments, in particular indication for physiotherapy, orthopedic treatment for correction of foot deformity, scoliosis, and flexion contractures of elbows, and treatment of respiratory failure. The turning point in basic research on collagen VI myopathies was the discovery of an unexpected mitochondrial dysfunction as a pathogenetic mechanism underlying the myopathic syndrome seen in Col6a1 null mice. Treatment of Col6a1 Ϫ/Ϫ mice with cyclosporin A (CsA) rescued the mitochondrial dysfunction and decreased apoptosis. Similar mitochondrial defects were revealed in cultures of UCMD patients. The results of an open pilot trial with CsA in five patients with collagen VIrelated myopathies are summarized and discussed. With the availability of new potential effective treatments, several challenges must be addressed in conducting trials in orphan diseases and in neuromuscular disorders in particular. Outcome measures are discussed in the context of the expected effect of the cure. Randomized clinical trials often are not feasible for rare diseases, and sometimes would be ethically inappropriate. The need to develop alternative outcome measures or biomarkers using platforms such as genomics and proteomics is stressed in this context.

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Cardiac and Pulmonary Investigations in Bethlem Myopathy

Abstract: Background: Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement.Objective: To investigate cardiac and respiratory involvement in Bethlem myopathy.

Cited by 35 publications

References 25 publications

Annexin A2 mediates collagen VI secretion, pulmonary elasticity, and bronchial epithelial cell apoptosis

Annexin A2 mediates collagen VI secretion, pulmonary elasticity, and bronchial epithelial cell apoptosis

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

Therapy of Collagen VI-Related Myopathies (Bethlem and Ullrich)

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