Facioscapulohumeral Muscular Dystrophy

Overview

Journal Curr Opin Neurol

Specialty Neurology

Date 2009 Sep 3

PMID 19724227

Citations 18

Authors

George W Padberg

Baziel Gm van Engelen

Affiliations

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Abstract

Purpose Of Review: Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.

Recent Findings: The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle development pathways and possibly vascular development pathways as well, which feeds into ideas about homeobox-related transcriptional dysregulation, which was originally suggested, based on the apparent descending order of muscle weakness.

Summary: The present findings and observations set a broad agenda for further research and possible therapeutic targets.

Citing Articles

Molecular and Phenotypic Changes in FLExDUX4 Mice.

Murphy K, Zhang A, Bittel A, Chen Y J Pers Med. 2023; 13(7).

PMID: 37511653 PMC: 10381554. DOI: 10.3390/jpm13071040.

Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients.

Fionda L, Vanoli F, Di Pasquale A, Leonardi L, Morino S, Merlonghi G Neurol Sci. 2023; 44(11):4057-4064.

PMID: 37311950 PMC: 10570177. DOI: 10.1007/s10072-023-06842-5.

Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.

Delourme M, Charlene C, Gerard L, Ganne B, Perrin P, Vovan C Neurol Genet. 2023; 9(3):e200076.

PMID: 37200893 PMC: 10188231. DOI: 10.1212/NXG.0000000000200076.

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.

Laberthonniere C, Novoa-Del-Toro E, Delourme M, Chevalier R, Broucqsault N, Mazaleyrat K J Cachexia Sarcopenia Muscle. 2021; 13(1):621-635.

PMID: 34859613 PMC: 8818656. DOI: 10.1002/jcsm.12835.

Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning.

Monforte M, Bortolani S, Torchia E, Cristiano L, Laschena F, Tartaglione T J Neurol. 2021; 269(4):2055-2063.

PMID: 34486074 DOI: 10.1007/s00415-021-10786-1.