Abstract We have frequently observed that Beevor's sign was present in patients with facioscapulohumeral dystrophy (FSHD) but absent in patients with other neuromuscular disorders. [ncbi.nlm.nih.gov]

Significant clinical variability exists and atypical presentations have been reported. Sensory, cardiac and neurological signs may be present in rare cases. [orpha.net]

In addition to workup, the disease characteristics, head and neck manifestations, and prognosis are discussed. [ncbi.nlm.nih.gov]

Conclusions : The clinical workup in the diagnosis and the timely indication of genetic studies are highlighted, to avoid unnecessary and invasive procedures. [scielo.conicyt.cl]

Conclusions: The clinical workup in the diagnosis and the timely indication of genetic studies are highlighted, to avoid unnecessary and invasive procedures. [repositorio.uchile.cl]

Lack of dystrophin leads to cellular instability at these links, with progressive leakage of intracellular components; this results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD. [emedicine.medscape.com]

In FSHD diagnostic workup, our imaging protocol is suitable when the available MRI equipment, even if characterized by high performance, does not allow complete whole-body examinations with coverage from head to feet. [journals.plos.org]

MAIN OUTCOME MEASURES: Overall intensity and duration of pain, pain inference, pain sites, pain treatments, and relief provided by pain treatments. RESULTS: More subjects with FSHD (82%) than with MMD (64%) reported pain. [ncbi.nlm.nih.gov]

Management and treatment Treatment is symptomatic, aiming towards prevention of joint stiffness and pain by passive mobilization and administration of antalgics. In severe cases, ventilatory support may be required. [orpha.net]

The situation is the same for other rare diseases where there is no treatment approved. [eurordis.org]

This chapter reviews the epidemiology, pathogenesis, genetics, clinical features, investigation, prognosis, and management of patients with FSHD and the scapuloperoneal syndrome. Copyright © 2011 Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

Prognosis Prognosis depends upon the extent of loss of functional capacity but life expectancy is not reduced, unless in rare occurrence where respiratory functions are affected. [orpha.net]

In addition, a smaller group of FSHD cases are not associated with D4Z4 repeat contraction (termed "phenotypic" FSHD), and their etiology remains undefined. [ncbi.nlm.nih.gov]

The debate was eventually settled in favor of a myopathic etiology, and in 1954, Walston and Nattrass included FSH as one of the three categories of muscular dystrophy, along with Duchenne MD and Limb-Girdle MD. [medicine.yale.edu]

Etiology Two genetic subtypes of FSHD have been identified: the classical form (FSHD1) which is associated with D4Z4 pathogenic contraction on a 4qA chromosome 4 and FSHD2 which is associated with mutations in SMCHD1 (18p11.32). [orpha.net]

ETIOLOGY/INCIDENCE: benign form of muscular dystrophy predominantly affecting muscles of shoulder girdle and face autosomal dominate disorder there is considerable intrafamilial variability of phenotypic expression complete penetrance by fourth decade [gait.aidi.udel.edu]

This chapter reviews the epidemiology, pathogenesis, genetics, clinical features, investigation, prognosis, and management of patients with FSHD and the scapuloperoneal syndrome. Copyright © 2011 Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

Patient Population: Prevalence and Epidemiology Knee // Shoulder & Elbow // Hip // Spine // Foot & Ankle // Hand & Wrist Fragility Fractures: Diagnosis and Treatment Shoulder & Elbow The Characteristics of Surgeons Performing Total Shoulder Arthroplasty [amjorthopedics.com]

Introduction A neuromuscular disorder which causes progressive muscle weakness in the face (facio), shoulder girdle (scapulo), and upper arm (humeral) Epidemiology incidence third most common muscular dystrophy after Duchenne and myotonic dystrophy 1 [orthobullets.com]

Summary Epidemiology FSHD is a rare familial disease with an estimated prevalence of 1/20,000. It is the 3rd most common form of hereditary myopathy. Clinical description Onset occurs between 3 and 60 years of age. [orpha.net]

Furthermore, the pathophysiological mechanisms leading to muscle weakness in most neuromuscular disorders are not completely understood. [ncbi.nlm.nih.gov]

The exact pathophysiology of FSHD remains unknown as of March 2007. [wikidoc.org]

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet. 2009. 18:2414-2430. Statland JM, Tawil R. [emedicine.medscape.com]

The treatment is aimed at reducing severity of the symptoms and preventing complications. [dovemed.com]

Treatment Maintenance of function and prevention of contractures Treatment of limb-girdle dystrophy focuses on maintaining function and preventing contractures. [merckmanuals.com]

Similarly screening for hearing loss in the same population may help prevent delayed or impaired language development in children. back to top [urmc.rochester.edu]

BACKGROUND/OBJECTIVES: Animal and human studies suggest that beta(2)-adrenergic agonists exert anabolic effects on muscles, inducing and preventing atrophy after a variety of insults. [ncbi.nlm.nih.gov]