Facioscapulohumeral Muscular Dystrophies.

07:00 EST 1st December 2019 | BioPortfolio

Summary of "Facioscapulohumeral Muscular Dystrophies."

Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials.


Journal Details

This article was published in the following journal.

Name: Continuum (Minneapolis, Minn.)
ISSN: 1538-6899
Pages: 1662-1681


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PubMed Articles [481 Associated PubMed Articles listed on BioPortfolio]

A Pilot Study of the Responsiveness of Wireless Motion Analysis in Facioscapulohumeral Muscular Dystrophy.

We determined if instrumenting timed functional tasks (TFTs) with wireless inertial motion sensors was responsive to facioscapulohumeral muscular dystrophy (FSHD) progression and movement pattern chan...

The Limb-Girdle Muscular Dystrophies.

As a group, the limb-girdle muscular dystrophies (LGMDs) are the fourth most prevalent genetic muscle disease, yet they are still not well known or understood. This article defines and describes LGMDs...

Disease-specific aspects of management of cardiac arrhythmias in patients with muscular dystrophies.

Cardiac arrhythmias are common in patients with various types of muscular dystrophies. The pathophysiological mechanisms of arrhythmias are complex and related to direct involvement of the conduction ...

Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification.

Duchenne and Becker muscular dystrophies are rare diseases that receive limited attention in our field. The objective of this study was to implement the Multiplex Ligation-dependent Probe Amplificatio...

Pluripotent Stem Cell-Based Therapeutics for Muscular Dystrophies.

Pluripotent stem cells (PSCs) represent an attractive cell source for treating muscular dystrophies (MDs) since they easily allow for the generation of large numbers of highly regenerative myogenic pr...

Clinical Trials [814 Associated Clinical Trials listed on BioPortfolio]

The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies

The purpose of this study is to assess the safety and biological activity of ATYR1940 in patients with Limb Girdle (LGMD2B) or Facioscapulohumeral Muscular Dystrophy (FSHD).

The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies

The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death o...

Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study Extension

The purpose of this study is to assess the safety and tolerability profile of ATYR1940 in the treatment of adult patients with molecularly defined genetic muscular dystrophies.

Prognostic Factors , Morbidity and Mortality in Patients With Muscular Dystrophies Admitted in ICU

Muscular dystrophies are neuromuscular disorders with disability. Restrictive pulmonary failure and cardiomyopathy affect prognosis.The investigators aim to establish predictive factors fo...

High Intensity Training in Patients With Facioscapulohumeral Muscular Dystrophy

The investigators aim to investigate the effect of high-intensity training in patients with facioscapulohumeral muscular dystrophy. Can patients benefit from this type of exercise without ...

Medical and Biotech [MESH] Definitions

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).

Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.

A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.

An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES.

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