Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort

Pasqualin, Lívia M.A.; Reed, Umbertina Conti; Costa, Thaís Virgínia Moura Machado; Quedas, Elisangela P S; Albuquerque, Marco Antônio Veloso; Resende, Maria Bernadete Dutra de; Rutkowski, Anne; Chadi, Gerson; Zanoteli, Edmar

doi:10.1016/j.pediatrneurol.2013.11.010

Cited by 25 publications

(28 citation statements)

References 16 publications

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“…CI has been reported in various types of CMD. Cardiac involvement, in particular, appears to occur in patients carrying mutations in the LMNA (arrhythmias, dCMP), 72) COL6A (dCMP, systolic dysfunction requiring HTX), 73) 74) POMT1 (aortic root ectasia, systolic dysfunction), 75) CHKB (dCMP, systolic dysfunction, congenital heart defects), 76) and LAMA2 (dCMP) 77) 78) genes. Additionally, CI has been reported in patients with Fukuyama congenital muscular dystrophy (dCMP, systolic dysfunction) due to FKTN mutations, 79) congenital muscular dystrophy with alpha-dystroglycan deficiency (dCMP, CCDs, mitral regurgitation), 80) and in merosin-positive congenital muscular dystrophy (systolic and diastolic dysfunction).…”

Section: Resultsmentioning

confidence: 99%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved. Involvement of the myocardium manifests most frequently as hypertrophic or dilated cardiomyopathy and less frequently as restrictive cardiomyopathy, non-compaction, arrhythmogenic right-ventricular dysplasia, or Takotsubo-syndrome. Cardiac conduction defects and supraventricular and ventricular arrhythmias are common cardiac manifestations of NMDs. Arrhythmias may evolve into life-threatening ventricular tachycardias, asystole, or even sudden cardiac death. CI is common and carries great prognostic significance on the outcome of dystrophinopathies, laminopathies, desminopathies, nemaline myopathy, myotonias, metabolic myopathies, Danon disease, and Barth-syndrome. The diagnosis and treatment of CI in NMDs follows established guidelines for the management of cardiac disease, but cardiotoxic medications should be avoided. CI in NMDs is relatively common and requires complete work-up following the establishment of a neurological diagnosis. Appropriate cardiac treatment significantly improves the overall long-term outcome of NMDs.

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Section: Resultsmentioning

confidence: 99%

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Finsterer

Stöllberger

2016

Korean Circ J

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“…One of the best studied myopathies by muscle imaging is the group of muscle skeletal laminopathies or LMNA ‐RD. Several studies have described a consistent pattern, including 2 recently published systematic analyses of the congenital and adult forms. Although the congenital series studied signal abnormalities using T1‐TSE sequences on whole‐body MRI, the adult multicenter study in LMNA ‐related EDMD and LGMD1B collected data from muscle MRI and CT scans, all limited to the lower limbs .…”

Section: Discussionmentioning

confidence: 74%

“…4,5 Several reports of studies have been published with descriptions of signal abnormalities that used T1-turbo spin echo (TSE) sequences on MRI or computed tomography (CT) scans. [6][7][8][9][10] More recently, 2 systematic analyses of muscle MRI have described the differences of fibroadipose infiltration in the muscle of LMNA-RD patients, one used whole-body MRI in children with the congenital form 11 and the other used MRI and CT scans of lower limbs in adults with later onset forms-EDMD and LGMD1B. 12 Patterns of fatty infiltration have been systematically described.…”

Section: Accepted 24 July 2018mentioning

confidence: 99%

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up

et al. 2018

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“…Patients with type 1 myofibril atrophy were more severe than our patients. 6,7 Lymphocytic inflammation was observed in biopsies of some patients with severe form. No inflammation was noted in both our and other dropped head patients.…”

Section: Discussionmentioning

confidence: 99%

Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy

Tekin¹,

Yılmaz²,

Tekgül³

et al. 2020

Turk J Pediatr

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Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C> A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.

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Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort

Cited by 25 publications

References 16 publications

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up

Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy

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