Symptoma

Facioscapulohumeral Dystrophy

FSHD

Facioscapulohumeral dystrophy is the third most common muscular dystrophy and the one most likely to present primarily in the head and neck. [ncbi.nlm.nih.gov]

  • Severe Pain

    Patients can also experience: Episodes of “malaise” or “burning pain” in muscles; Severe pain from changes in posture and strain on remaining muscles; Chronic fatigue; Respiratory insufficiency; Hearing loss; Coats’ disease (retinal telangiectasis); rare [fshsociety.org]

    pain (the result of nonresponsive muscles, neuropathy, damage to the bone articulations and internal organ atrophy) My sister struggles with the following: Losing muscle strength and function Affected joints Respiratory difficulties Cardiac muscle affected [eurordis.org]

  • Pleural Effusion

    A postoperative chest infection developed in 1 patient and a pleural effusion in another. One brachial plexus palsy occurred, which had almost completely resolved by 27 months postoperatively. [ncbi.nlm.nih.gov]

    COMPLICATIONS: inappropriate positioning; there should be a 10 - 20 degree angle between vertebral border of scapula and the spine. rib and scapula fractures brachial plexus palsy _ brachial artery obstruction pneumothorax, pleural effusion, and pleuritic [gait.aidi.udel.edu]

  • Chest Pain

    There were no instances of pleuritic chest pain, hemothorax, or pneumothorax. There was no substantive change in pulmonary function. [ncbi.nlm.nih.gov]

  • Increased Muscle Mass

    CONCLUSIONS: Although albuterol did not improve global strength or function in patients with FSHD, it did increase muscle mass and improve some measures of strength. [ncbi.nlm.nih.gov]

    The use of medications, such as albuterol, to increase muscle mass have been tried although the increased muscle mass has not been shown to improve movement and strength. [facialpalsy.org.uk]

    Determine whether albuterol increases muscle mass in this patient population as determined by 24 hour urinary creatinine excretion and dual energy x-ray absorptiometry (DEXA). III. [clinicaltrials.gov]

    Oral albuterol to increase muscle mass (but not strength). Speech therapy. Surgery to fix a winged scapula. Walking aids and foot support devices if there is ankle weakness. BiPAP to help breathing. [medlineplus.gov]

    Some of the possible treatment methods include: Physical therapy to strengthen the muscles Oral albuteral to increase muscle mass Speech therapy Surgery to rectify deformed scapula Use of walking aids and foot supporting devices How can Facioscapulohumeral [dovemed.com]

  • Suggestibility

    The findings, based on multiply informative individual meioses and multipoint mapping, suggest that probe p13E-11 is the closest marker for the disorder and it is likely to be located proximal to the disease locus as are all the other present markers. [ncbi.nlm.nih.gov]

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]

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]

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]

  • Pleural Effusion

    A postoperative chest infection developed in 1 patient and a pleural effusion in another. One brachial plexus palsy occurred, which had almost completely resolved by 27 months postoperatively. [ncbi.nlm.nih.gov]

    COMPLICATIONS: inappropriate positioning; there should be a 10 - 20 degree angle between vertebral border of scapula and the spine. rib and scapula fractures brachial plexus palsy _ brachial artery obstruction pneumothorax, pleural effusion, and pleuritic [gait.aidi.udel.edu]

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]

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

[…] repeated elements of D4Z4 on chromosome 4q35 double homeobox 4 ( DUX4 ) no longer supressed believed to cause disease through gain-of-function mechanism Associated Conditions orthopaedic manifestations scoliosis (rare) camptocormia (bent spine syndrome) Prognosis [orthobullets.com]

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]

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]

Research which may benefit from interactions with the registry includes but is not limited to: Clinical research that will improve standards of care and best practices Scientific research that increases understanding of disease mechanism and pathology Epidemiological [newcastle-muscle.org]

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]

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

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]

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]

There is currently no treatment or prevention of symptoms of FSHD. [bcbst.com]