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Facioscapulohumeral Muscular Dystrophy [PDF]

Neurologic Clinics, 2014
This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey Statland, Rabi Tawil
exaly   +6 more sources

Development and Validation of a Deep Learning-Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under‐researched with limited objective clinical measures.
Loonen TGJ, Ten Harkel TC, Vincenten SCC, Horlings CGC, Beurskens CHG, Knuijt S, Padberg GWAM, van Engelen BGM, Maal TJJ, Mul K.   +9 more
europepmc   +2 more sources

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy. [PDF]

Ann Neurol
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Mul K, McDermott MP, Butterfield RJ, Elsheikh B, Eichinger K, Johnson NE, Leung DG, LoRusso S, Lewis L, Martens WB, Shieh PB, Wang LH, Walker M, Tawil R, Statland JM, ReSolve Investigators of the FSHD‐CTRN.   +15 more
europepmc   +2 more sources

Baroreflex sensitivity in facioscapulohumeral muscular dystrophy

Physiological Reports, 2022
Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss.
Miguel Anselmo, Shandon Coffman, Mia Larson, Kathryn Vera, Emma Lee, Mary McConville, Michael Kyba, Manda L. Keller‐Ross   +7 more
doaj   +3 more sources

Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

Trends in Molecular Medicine, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying genetics and poor mechanistic understanding has caused a bottleneck in therapeutic development.
Angela Lek, Alec Desimone, Monkol Lek
exaly   +4 more sources

A review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies [PDF]

Reviews in Clinical Medicine, 2021
Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom.
Mohammad Reza Seyyed taghia, Reza Jafarzadeh Esfehani, Reza Boostani, Mohammad Shariati, Ariane Sadr Nabavi   +4 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy [PDF]

Current Opinion in Neurology, 2012
In recent years, we have seen remarkable progress in our understanding of the disease mechanism underlying facioscapulohumeral muscular dystrophy (FSHD). The purpose of this review is to provide a comprehensive overview of our current understanding of the disease mechanism and to discuss the observations supporting the possibility of a developmental ...
Maarel, S.M. van der, Miller, D.G., Tawil, R., Filippova, G.N., Tapscott, S.J.   +4 more
  +7 more sources

Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient

SAGE Open Medical Case Reports, 2022
Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle ...
Olga Triantafyllidou, Konstantinos Stavridis, Stavroula Lila Kastora, Nikolaos Vlahos   +3 more
doaj   +1 more source

Facioscapulohumeral Muscular Dystrophy

Continuum, 2022
This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.FSHD has a wide range of severity, yet a distinct phenotype characterized by weakness of the facial, shoulder, and upper arm muscles, followed by weakness ...
Mul, K., Mul, K.
openaire   +3 more sources

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source