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]

• Weakness

  Of the four FSHD patients, two patients had severe peroneal weakness and two patients had mild peroneal weakness on clinical examination. [ncbi.nlm.nih.gov]

• Difficulty Walking

  However, muscle twitching is a less indicative symptom of MD, which can also include mental slowness, trouble walking, drooling, and difficulty using certain muscles. [sharecare.com]

  PATIENT 2 A 57 year old woman was referred to a neurologist in 1997 because she had had difficulty walking for about 6 years. Neurological examination disclosed weakness of the hamstrings. [jnnp.bmj.com]

• Developmental Delay

  Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. [ncbi.nlm.nih.gov]

• Muscle Weakness

  These features may be related not only to upper body muscle weakness, but also to a strategy functional to the compensation of proximal leg muscle weakness. [ncbi.nlm.nih.gov]

  The muscle weakness eventually spreads to other skeletal muscles as well. Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine [wikidata.org]

  FSHD may also be characterized by weakness and atrophy of other muscles, including abdominal wall, hip, and thigh muscles. [rarediseases.org]

  Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). [fshditalia.org]

• Myopathy

  The four patients, each harboring 4q35 deletions, presented with atypical phenotypes including facial-sparing scapular myopathy, limb-girdle muscular dystrophy, distal myopathy, and asymmetric brachial weakness. [ncbi.nlm.nih.gov]

  […] nemaline myopathy, 1 FLNC -mutated myofibrillar myopathy, 1 by anti-signal recognition particle (SRP) myopathy. [journals.plos.org]

  Landouzy L, Déjerine J (1885) De la myopathie atrophique progressive: myopathie sans neuropathie, débutant d'ordinaire dans l'enfance, par la face. Rev Méd 5:81–117, 253–366 Google Scholar 14. Lenhardt E (1978) Praktische Audiometrie. [link.springer.com]

  […] body myopathy with Paget disease of bone and frontotemporal dementia (see these terms), proximal neuropathies or neuronopathies. [orpha.net]

• Muscular Atrophy

  : «Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24-31». Hum. Mol. [jmunozy.org]

  Therefore, a tentative diagnosis of spinal muscular atrophy was made. The patient was then referred to the neuromuscular unit. [jnnp.bmj.com]

  Complications As a consequence of muscular dystrophy and also non-insulin dependent diabetes, my mother has developed many complications, including: Muscular atrophy in legs, arms and muscles of upper and lower back Difficulties swallowing food and periodontitis [eurordis.org]

• Sloping Shoulders

  The initial manifestation is facial weakness (difficulties whistling, smiling and closing the eyes) but the main complain is shoulder involvement (difficulties rising the arms, scapular winging and sloping shoulders). [orpha.net]

  […] level Shoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders. [medlineplus.gov]

  Facial muscle weakness (eyelid drooping, inability to whistle, decreased facial expression, depressed or angry facial expression, difficulty pronouncing the letters M, B, and P) Shoulder weakness (difficulty working with the arms raised, sloping shoulder [wikidoc.org]

• Clumsiness

  When to see a doctor Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in yourself or your child. Causes Certain genes are involved in making proteins that protect muscle fibers from damage. [mayoclinic.org]

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]

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

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]

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]

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]

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]

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]

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]

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]