263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

Sárközy, Anna; Quinlivan, Rosaline C. M.; Bourke, John; Ferlini, Alessandra

doi:10.1016/j.nmd.2023.01.003

Cited by 9 publications

(4 citation statements)

References 56 publications

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“…Duchenne muscular dystrophy (DMD) constitutes the most severe end of the spectrum, while Becker muscular dystrophy (BMD is a milder disease form with later onset and slower progression. Moreover, mutations in the DMD gene occasionally cause isolated X-linked cardiomyopathy [ 146 ] or may manifest in symptomatic female carriers [ 147 ]. DMD is the most common form of muscular dystrophy affecting around 20 per 100.000 live male births, [ 148 ] while the prevalence of BMD is fewer than 8 cases per 100.000 [ 149 ].…”

Section: Muscular Dystrophiesmentioning

confidence: 99%

Molecular mechanisms and therapeutic strategies for neuromuscular diseases

Zambon,

Falzone,

Bolino

et al. 2024

Cell. Mol. Life Sci.

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Neuromuscular diseases encompass a heterogeneous array of disorders characterized by varying onset ages, clinical presentations, severity, and progression. While these conditions can stem from acquired or inherited causes, this review specifically focuses on disorders arising from genetic abnormalities, excluding metabolic conditions. The pathogenic defect may primarily affect the anterior horn cells, the axonal or myelin component of peripheral nerves, the neuromuscular junction, or skeletal and/or cardiac muscles. While inherited neuromuscular disorders have been historically deemed not treatable, the advent of gene-based and molecular therapies is reshaping the treatment landscape for this group of condition. With the caveat that many products still fail to translate the positive results obtained in pre-clinical models to humans, both the technological development (e.g., implementation of tissue-specific vectors) as well as advances on the knowledge of pathogenetic mechanisms form a collective foundation for potentially curative approaches to these debilitating conditions. This review delineates the current panorama of therapies targeting the most prevalent forms of inherited neuromuscular diseases, emphasizing approved treatments and those already undergoing human testing, offering insights into the state-of-the-art interventions.

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Section: Muscular Dystrophiesmentioning

confidence: 99%

Molecular mechanisms and therapeutic strategies for neuromuscular diseases

Zambon,

Falzone,

Bolino

et al. 2024

Cell. Mol. Life Sci.

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“…The picture of severe dilated cardiomyopathy with intractable heart failure is typical of BMD [20][21][22][23] XL-DCM [17] and DMD/BMD carriers [24][25][26] and frequently observed in patients with DMD over the age of 18 [27,28]. Conduction system defects and supraventricular or ventricular arrhythmias may also be present, especially in the end stages of the disease.…”

Section: Dystrophinopathiesmentioning

confidence: 99%

Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review

Politano

2024

IJMS

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Inherited muscular diseases (MDs) are genetic degenerative disorders typically caused by mutations in a single gene that affect striated muscle and result in progressive weakness and wasting in affected individuals. Cardiac muscle can also be involved with some variability that depends on the genetic basis of the MD (Muscular Dystrophy) phenotype. Heart involvement can manifest with two main clinical pictures: left ventricular systolic dysfunction with evolution towards dilated cardiomyopathy and refractory heart failure, or the presence of conduction system defects and serious life-threatening ventricular arrhythmias. The two pictures can coexist. In these cases, heart transplantation (HTx) is considered the most appropriate option in patients who are not responders to the optimized standard therapeutic protocols. However, cardiac transplant is still considered a relative contraindication in patients with inherited muscle disorders and end-stage cardiomyopathies. High operative risk related to muscle impairment and potential graft involvement secondary to the underlying myopathy have been the two main reasons implicated in the generalized reluctance to consider cardiac transplant as a viable option. We report an overview of cardiac involvement in MDs and its possible association with the underlying molecular defect, as well as a systematic review of HTx outcomes in patients with MD-related end-stage dilated cardiomyopathy, published so far in the literature.

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“…Die Duchenne-Muskeldystrophie (DMD) ist eine X‑chromosomal-rezessiv vererbte, progressive Muskelerkrankung. Etwa 1 von 5000 Neugeborenen Jungen ist von der Erkrankung betroffen, Frauen können als Konduktorinnen der Erkrankung auftreten, in der Regel zeigen sie keine oder allenfalls milde Symptome der Erkrankung [ 44 ]. DMD-Jungen zeigen schon in jungen Jahren unspezifische Auffälligkeiten in der Entwicklung, z.…”

Section: Muskeldystrophie Duchenneunclassified

Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen

2023

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Hintergrund Die Möglichkeiten im Bereich der molekularen Therapien neuromuskulärer Erkrankungen haben sich in den letzten Jahren rasant entwickelt. Erste Präparate stehen im klinischen Alltag zur Verfügung, zahlreiche weitere Substanzen befinden sich in fortgeschrittenen Phasen der klinischen Prüfung. Dieser Beitrag gibt einen aktuellen, exemplarischen Überblick über den Stand der klinischen Forschung im Bereich der molekularen Therapien neuromuskulärer Erkrankungen mit Blick in die nahe Zukunft der klinischen Anwendung inklusive deren Herausforderungen. Diskussion Am Beispiel der Duchenne Muskeldystrophie und der myotubulären Myopathie werden die Prinzipien der Genaddition bei monogenetischen Erkrankungen der Muskulatur beschrieben, die sich bereits im Kindesalter manifestieren. Neben ersten Erfolgen werden auch die Herausforderungen und Rückschläge aufgezeigt, die für eine Zulassung und klinische Regelanwendung überwunden werden müssen. Darüber hinaus fassen wir den Stand der klinischen Forschung im Bereich der Muskeldystrophie Typ Becker-Kiener und in Auswahl für die Gliedergürteldystrophien zusammen. Zahlreiche neue therapeutische Ansätze und ein entsprechender Ausblick werden auch für die fazioskapulohumerale Muskeldystrophie (FSHD), den Morbus Pompe und die myotone Dystrophie gezeigt. Schlussfolgerung Die klinische Forschung im Bereich der molekularen Therapien neuromuskulärer Erkrankungen gehört zu den Schrittmachern der modernen Präzisionsmedizin. Herausforderungen müssen aber gesehen und in Zukunft gemeinsam adressiert und überwunden werden. Zusatzmaterial online Die Onlineversion dieses Beitrags (10.1007/s00115-023-01495-3) enthält zwei Tabellen.

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263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

Cited by 9 publications

References 56 publications

Molecular mechanisms and therapeutic strategies for neuromuscular diseases

Molecular mechanisms and therapeutic strategies for neuromuscular diseases

Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review

Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen

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