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Facio scapulo humeral dystrophy

Tiffanie Guillot, Sylvain Roche, Pascal Rippert, Dalil Hamroun, Jean Iwaz, René Ecochard, Carole Vuillerot
OBJECTIVE: Examine whether a Rasch analysis is sufficient to establish the construct validity of the Motor Function Measure (MFM) and discuss whether weighting the MFM item scores would improve the MFM construct validity. DESIGN: Observational cross-sectional multicenter study. SETTING: 23 physical medicine departments, neurology departments, or reference centers for neuromuscular diseases PARTICIPANTS: 911 patients (aged 6 to 60 years) with Charcot-Marie-Tooth disease (CMT), facio-scapulo-humeral dystrophy (FSHD), or myotonic dystrophy type 1 (DM1) INTERVENTIONS: None...
April 3, 2018: Archives of Physical Medicine and Rehabilitation
Simona Portaro, Rocco Salvatore Calabrò, Placido Bramanti, Giuseppe Silvestri, Michele Torrisi, Valeria Conti-Nibali, Santina Caliri, Christian Lunetta, Bernardo Alagna, Antonino Naro, Alessia Bramanti
BACKGROUND: Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases...
September 21, 2017: Disability and Health Journal
Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlène Chaix, Arnaud Lagarde, Marjorie Pierret, Catherine Vovan, Sylviane Olschwang, Emmanuelle Salort-Campana, Shahram Attarian, Marc Bartoli, Rafaëlle Bernard, Frédérique Magdinier, Nicolas Levy
Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As molecular diagnosis relying on Southern blot (SB) might be challenging in some cases, molecular combing (MC) was recently developed as an additional technique for FSHD diagnosis and exploration of the genomic organization of the 4q35 and 10q26 regions. In complement to the usual SB, we applied MC in a large cohort of 586 individuals with clinical FSHD...
July 25, 2017: Human Mutation
Benjamin Leporq, Arnaud Le Troter, Yann Le Fur, Emmanuelle Salort-Campana, Maxime Guye, Olivier Beuf, Shahram Attarian, David Bendahan
OBJECTIVES: To evaluate the combination of a fat-water separation method with an automated segmentation algorithm to quantify the intermuscular fatty-infiltrated fraction, the relaxation times, and the microscopic fatty infiltration in the normal-appearing muscle. MATERIALS AND METHODS: MR acquisitions were performed at 1.5T in seven patients with facio-scapulo-humeral dystrophy and eight controls. Disease severity was assessed using commonly used scales for the upper and lower limbs...
August 2017: Magma
Capucine de Lattre, Pascal Rippert, Dalil Hmaroun, Sabrina Sacconi, Isabelle Poirot, Carole Vuillerot
OBJECTIVE: To assess the applicability and the responsiveness of the motor function measure 1 (MFM) in a facio scapulo humeral dystrophy (FSHD) population. MATERIALS/PATIENTS AND METHODS: It is an observational, retrospective and multicenter, cohort study. MFM data came from the MFM database (see Only FSHD patients with at least one MFM-32 were included. The distributions of the MFM scores (total score and MFM D1, D2 and D3 subscores) were analyzed by age...
September 2016: Annals of Physical and Rehabilitation Medicine
Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort Campana, Virginie Mariot, Charlene Chaix, Catherine Vovan, Killian Mazaleyrat, Armand Tasmadjian, Rafaelle Bernard, Julie Dumonceaux, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Marc Bartoli
BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2). In 70-80 % of these patients, variants of the SMCHD1 gene segregate with 4qA haplotypes and D4Z4 hypomethylation. CASE PRESENTATION: We report a family presenting with neuromuscular symptoms reminiscent of FSHD but without D4Z4 copy reduction...
September 15, 2016: BMC Medical Genetics
N G Margraf, A Wrede, G Deuschl, W J Schulz-Schaeffer
Camptocormia is a disabling pathological, non-fixed, forward bending of the trunk. The clinical definition using only the bending angle is insufficient; it should include the subjectively perceived inability to stand upright, occurrence of back pain, typical individual complaints, and need for walking aids and compensatory signs (e.g. back-swept wing sign). Due to the heterogeneous etiologies of camptocormia a broad diagnostic approach is necessary. Camptocormia is most frequently encountered in movement disorders (PD and dystonia) and muscles diseases (myositis and myopathy, mainly facio-scapulo-humeral muscular dystrophy (FSHD))...
June 16, 2016: Journal of Parkinson's Disease
Elżbieta Szmidt-Sałkowska, Małgorzata Gaweł, Marta Lipowska
The aim of this study was to analyze motor unit reorganization in different types of progressive muscular dystrophies and congenital myopathies. The study population consisted of patients with genetically verified progressive muscular dystrophies: Duchenne (DMD) (n=54), Becker (BMD) (n=30), facio-scapulo-humeral (FSHD) (n=37), and Emery-Dreifuss (E-DD) (n=26). Patients with probable limb-girdle dystrophy (L-GD) (n=58) and congenital myopathies (n=35) were also included in the study. Quantitative EMG recordings were obtained from 469 muscles...
2015: Neurologia i Neurochirurgia Polska
Virginie Mariot, Stephane Roche, Christophe Hourdé, Debora Portilho, Sabrina Sacconi, Francesca Puppo, Stephanie Duguez, Philippe Rameau, Nathalie Caruso, Anne-Lise Delezoide, Claude Desnuelle, Bettina Bessières, Sophie Collardeau, Leonard Feasson, Thierry Maisonobe, Frederique Magdinier, Françoise Helmbacher, Gillian Butler-Browne, Vincent Mouly, Julie Dumonceaux
OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant expression of the transcription factor DUX4. However, it is still difficult to correlate these genotypes with the phenotypes observed in patients. Because we have recently shown that mice with disrupted Fat1 functions exhibit FSHD-like phenotypes, we have investigated the expression of the human FAT1 gene in FSHD...
September 2015: Annals of Neurology
(no author information available yet)
No abstract text is available yet for this article.
December 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
J U Regula, L Jestaedt, F Jende, A Bartsch, H-M Meinck, M-A Weber
OBJECTIVE: The objective of this study was to evaluate the clinical usefulness of whole-body magnetic resonance imaging (MRI) in facio-scapulo-humeral muscular dystrophy (FSHD). METHODS: In 20 patients with genetically proven FSHD1, we prospectively assessed muscular involvement and correlated the results of semi-quantitative manual muscle testing and other parameters such as disease duration, creatine kinase (CK) levels and repeat length of the D4Z4 locus with whole-body MRI...
December 2016: Clinical Neuroradiology
Josef Finsterer, Claudia Stöllberger, Edmund Gatterer, Sibylle Jakubiczka
Pre-excitation-syndrome has not been reported as a phenotypic feature of facio-scapulo-humeral muscular dystrophy (FSH-MD). In a 39-year-old male with FSH-MD due to a reduced tandem repeat size in the D4Z4-locus on chromosome 4q35, cardiac involvement, manifesting as an incomplete right bundle-branch-block, tall T-waves in V 3-5, ST-elevation in V 2-4, and mild thickening of the left ventricular myocardium, was first recognised 10 years earlier. Follow-up at age 39 years revealed mild myocardial thickening, two intra-ventricular aberrant bands, and, surprisingly, intermittent pre-excitation on a routine electrocardiography...
September 2014: Korean Circulation Journal
Haluk Topaloglu
The Mediterranean countries are distinguished with their peculiar genetic pool and diversities. Recessive diseases often present with their own founder mutations. In some instances this is shared with neighboring populations. Dominant disorders in the area are increasingly recognized as health care providing systems and technology improve. Among muscular dystrophies Duchenne and Becker types constitute the major fraction in almost all societies. This is followed by various forms of limb-girdle muscular dystrophy...
December 2013: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
Natacha Broucqsault, Julia Morere, Marie-Cécile Gaillard, Julie Dumonceaux, Julia Torrents, Emmanuelle Salort-Campana, André Maues De Paula, Marc Bartoli, Carla Fernandez, Anne Laure Chesnais, Maxime Ferreboeuf, Laure Sarda, Henry Dufour, Claude Desnuelle, Shahram Attarian, Nicolas Levy, Karine Nguyen, Frédérique Magdinier, Stéphane Roche
Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. To gain further insights into the molecular mechanisms of the disease, we evaluated at the molecular level, the perturbation linked to the FSHD genotype with no a priori on disease onset, severity or penetrance and prior to any infiltration by fibrotic or adipose tissue in biopsies from fetuses carrying a short pathogenic D4Z4 array (n = 6) compared with fetuses with a non-pathogenic D4Z4 array (n = 21)...
October 15, 2013: Human Molecular Genetics
Laetitia Davidovic, Nelly Durand, Olfa Khalfallah, Ricardo Tabet, Pascal Barbry, Bernard Mari, Sabrina Sacconi, Hervé Moine, Barbara Bardoni
The Fragile X-Related 1 gene (FXR1) is a paralog of the Fragile X Mental Retardation 1 gene (FMR1), whose absence causes the Fragile X syndrome, the most common form of inherited intellectual disability. FXR1P plays an important role in normal muscle development, and its absence causes muscular abnormalities in mice, frog, and zebrafish. Seven alternatively spliced FXR1 transcripts have been identified and two of them are skeletal muscle-specific. A reduction of these isoforms is found in myoblasts from Facio-Scapulo Humeral Dystrophy (FSHD) patients...
March 2013: PLoS Genetics
M Masciullo, E Iannaccone, M L E Bianchi, M Santoro, G Conte, A Modoni, M Monforte, G Tasca, F Laschena, E Ricci, G Silvestri
Here we describe the first case of myotonic dystrophy type 1 (DM1) associated with facio-scapulo-humeral dystrophy (FSHD). From a clinical point of view, the patient displayed a pattern of muscle involvement reminiscent of both disorders, including hand-grip myotonia, facial, axial and distal limbs muscle weakness as well as a bilateral winged scapula associated with atrophy of the pectoralis major muscle and lumbar lordosis; pelvic muscles were mostly spared. An extensive muscle MRI assessment including neck, shoulder, abdominal, pelvic and lower limb muscles documented radiological features typical of DM1 and FSDH...
May 2013: Neuromuscular Disorders: NMD
M G D'Angelo, M Romei, A Lo Mauro, E Marchi, S Gandossini, S Bonato, G P Comi, F Magri, A C Turconi, A Pedotti, N Bresolin, A Aliverti
We studied respiratory function and Chest Wall kinematics in a large population of adult patients affected by slow course muscular dystrophies such as Limb-Girdle Muscular Dystrophy (LGMD, n=38), Becker Muscular Dystrophy (BMD, n=20) and Facio-Scapulo Humeral Dystrophy (FSHD, n=30), through standard spirometry and through the Optoelectronic Plethysmography, to measure the thoraco-abdominal motion during Quiet Breathing and Slow Vital Capacity maneuvers. Within the restrictive pulmonary syndrome characterizing LGMD and FSHD, several different thoraco-abdominal patterns compared to those of healthy subjects were present in the more advanced stages of the disease...
July 15, 2011: Journal of the Neurological Sciences
Alexandre Ottaviani, Caroline Schluth-Bolard, Eric Gilson, Frédérique Magdinier
Using cellular models that mimic the organizations of the subtelomeric 4q35 locus found in patients affected with Facio-Scapulo-Humeral Dystrophy (FSHD) and in healthy individuals, we recently investigated the biological function of the D4Z4 macrosatellite in this subtelomeric context.We demonstrated that D4Z4 acts as a CTCF and A-type lamins dependent insulator element exhibiting both enhancer- blocking and barrier activities, and displaces a telomere towards the nuclear periphery. This peripheral positioning activity lies within a short sequence that interacts with CTCF and A-type lamins...
January 2010: Nucleus
R C Jewesbury
No abstract text is available yet for this article.
June 1930: Proceedings of the Royal Society of Medicine
H B Shaw, P J Edmunds
No abstract text is available yet for this article.
1912: Proceedings of the Royal Society of Medicine
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