Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

Vainzof, Mariz; Richard, Pascale; Herrmann, Ralf; Jiménez‐Mallebrera, Cecilia; Talim, Beril; Yamamoto, Lídia; Ledeuil, C.; Mein, R.; Abbs, Stephen; Brockington, M; Romero, Norma B.; Zatz, Mayana; Topaloǧlu, Haluk; Voït, Thomas; Sewry, Caroline A.; Muntoni, Francesco; Guicheney, Pascale; Tomé, Fernando

doi:10.1016/j.nmd.2005.04.009

Cited by 39 publications

(11 citation statements)

References 27 publications

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“…The mean age of diagnosis, even for common variants such as Duchenne MD, is delayed by about two years after the manifestation of the early clinical signs [ 17 ] because the first symptoms are often overlooked. Consequently, neonatal screening programs [ 4 ] and even prenatal testing have been recommended [ 18 , 19 ].…”

Section: Muscular Dystrophymentioning

confidence: 99%

At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?

Gawlik

2018

IJMS

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Among diseases affecting skeletal muscle, muscular dystrophy is one of the most devastating and complex disorders. The term ‘muscular dystrophy’ refers to a heterogeneous group of genetic diseases associated with a primary muscle defect that leads to progressive muscle wasting and consequent loss of muscle function. Muscular dystrophies are accompanied by numerous clinical complications and abnormalities in other tissues that cause extreme discomfort in everyday life. The fact that muscular dystrophy often takes its toll on babies and small children, and that many patients die at a young age, adds to the cruel character of the disease. Clinicians all over the world are facing the same problem: they have no therapy to offer except for symptom-relieving interventions. Patients, their families, but also clinicians, are in urgent need of an effective cure. Despite advances in genetics, increased understanding of molecular mechanisms underlying muscle disease, despite a sweeping range of successful preclinical strategies and relative progress of their implementation in the clinic, therapy for patients is currently out of reach. Only a greater comprehension of disease mechanisms, new preclinical studies, development of novel technologies, and tight collaboration between scientists and physicians can help improve clinical treatment. Fortunately, inventiveness in research is rapidly extending the limits and setting new standards for treatment design. This review provides a synopsis of muscular dystrophy and considers the steps of preclinical and clinical research that are taking the muscular dystrophy community towards the fundamental goal of combating the traumatic disease.

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Section: Muscular Dystrophymentioning

confidence: 99%

At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?

Gawlik

2018

IJMS

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“…In our service we decided to perform PND in the 1990s for at-risk women, who would otherwise interrupt their pregnancy, fearing that their fetus could be affected by a genetic disorder (for example mothers or sisters of Duchenne muscular dystrophy patients or parents at-risk for congenital muscular dystrophy 1A, (Yamamoto et al , 2004, Vainzof et al , 2005). In the majority of cases referred for PND, the test results are negative for the mutation present in the family, and as a result, more women are encouraged to continue their pregnancies and unaffected babies are saved.…”

Section: Genetic Counselingmentioning

confidence: 99%

Neuromuscular disorders: genes, genetic counseling and therapeutic trials

2016

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Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.

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“…Пациенты с полным отсутствием мерозина чаще вынуждены прибегать к вентиляционной поддержке и установке назогастрального зонда/гастростомы. При верифицированной мутации LAMA2 возможна эффективная дородовая ДНК-диагностика на 10-12-й нед гестации [24].…”

Section: обсуждение общие сведения о мерозиндефицитной врожденной мышunclassified

Merosin-Deficient Congenital Muscular Dystrophy (Cmd1a): Clinical Case of Congenital Muscular Dystrophy Involving Central Nervous System

2014

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Врожденные мышечные дистрофии (ВМД)-крайне гетерогенная группа нервно-мышечных заболеваний. В статье представлены общие сведения о клинических и патогенетических аспектах диагностики ВМД с акцентом на одну из наиболее распространенных форм с поражением нервной системы-мерозиндефицитной врожденной мышечной дистрофии (ВМД1А). Дано подробное описание клинической картины ВМД1А, патогенеза, эпидемиологических сведений, подходов к инструментальной, морфологической и молекулярно-генетической диагностике, а также симптоматическому лечению и пренатальной диагностике. Учитывая единичные описания генетически подтвержденных клинических случаев ВМД1А в русскоязычной литературе, представляем собственное 3-летнее наблюдение ребенка с генетически подтвержденным диагнозом ВМД1А (мутации с.2049_2050delAG и c.6993-2A > C гена LAMA2 в компаунд-гетерозиготном состоянии). Приводится детальное обсуждение описываемого случая, сопоставление с результатами современных зарубежных и отечественных наблюдений ВМД1А у детей. Дается представление о дифференциальной диагностике ВМД1А в структуре других врожденных миодистрофий, оптимизации молекулярно-генетической диагностики.

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Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

Cited by 39 publications

References 27 publications

At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?

At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?

Neuromuscular disorders: genes, genetic counseling and therapeutic trials

Merosin-Deficient Congenital Muscular Dystrophy (Cmd1a): Clinical Case of Congenital Muscular Dystrophy Involving Central Nervous System

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