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hereditary myopathies

Subha Ghosh, Rahul Renapurkar, Subha V Raman
BACKGROUND: The objective of this study was to evaluate patients with known hereditary cardiac conduction and myocardial disease (HCCMD) caused by a lamin A/C gene mutation for skeletal muscle involvement using magnetic resonance imaging (MRI) computed tomography (CT). METHODS: Twenty-one patients with the diagnosis of HCCMD were available for study. Of these 21, 11 had MRI scans of the lower legs. The 11 that had an MRI were compared to a control group of 17 healthy controls...
October 2016: Cardiovascular Diagnosis and Therapy
Eman M Khedr, Gharib Fawi, Mohammed Abd-Allah Abbas, Noha Abo El-Fetoh, Ahmed F Zaki, Ayman Gamea, Ghada Al Attar
BACKGROUND: Few epidemiological studies of the prevalence of neuromuscular disorders have been undertaken. The aim of the study was to estimate the prevalence of the most common types of neuromuscular disorders in Qena governorate/Egypt. METHODS: A random sample was taken from 11 districts, involving 9303 inhabitants with 57.3% urban residents and 42.7% rural residence. Patients were diagnosed using a screening questionnaire for the diagnosis of neuromuscular disorders...
October 17, 2016: Neurological Research
Hong-Hao Yu, Heng Zhao, Yu-Bo Qing, Wei-Rong Pan, Bao-Yu Jia, Hong-Ye Zhao, Xing-Xu Huang, Hong-Jiang Wei
Dystrophinopathy, including Duchenne muscle dystrophy (DMD) and Becker muscle dystrophy (BMD) is an incurable X-linked hereditary muscle dystrophy caused by a mutation in the DMD gene in coding dystrophin. Advances in further understanding DMD/BMD for therapy are expected. Studies on mdx mice and dogs with muscle dystrophy provide limited insight into DMD disease mechanisms and therapeutic testing because of the different pathological manifestations. Miniature pigs share similar physiology and anatomy with humans and are thus an excellent animal model of human disease...
October 9, 2016: International Journal of Molecular Sciences
F Fatehi, E Salort-Campana, A Le Troter, D Bendahan, S Attarian
Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized by weakness of the facial, shoulder (often with scapular winging), arm (including biceps and triceps) and abdominal muscles. Forearm muscles are usually spared and weakness is usually asymmetrical. Over the past few decades, muscle magnetic resonance imaging (MRI) has become established as a reliable and accurate noninvasive tool for the diagnosis and assessment of progression in neuromuscular diseases, showing specific patterns of muscle involvement for a number of myopathies...
October 2016: Revue Neurologique
Neil G Simon, Yu-Ichi Noto, Craig M Zaidman
Skeletal muscle imaging is increasingly used as a complement to clinical and electrophysiological examination in neuromuscular disease. Ultrasound and MRI have developed as the modalities of choice, each with strengths and limitations. Characteristic changes of muscle denervation and myopathy are seen on imaging which may delineate the nature of the disease process or help guide muscle biopsy. Identifying patterns of muscle involvement in hereditary myopathies may inform genetic testing. This review discusses skeletal muscle imaging in neuromuscular disease focusing on practical applications of current and emerging ultrasound and MRI techniques...
November 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Hannah E Steele, Elizabeth Harris, Rita Barresi, Julie Marsh, Anna Beattie, John P Bourke, Volker Straub, Patrick F Chinnery
OBJECTIVE: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype. METHOD: Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imaging with MRI or CT. RESULTS: We studied 22 participants with the c.951434T>C; (p.Cys31712Arg) TTN missense mutation. Three were deceased. Cardiac conduction abnormalities were identified in 7/22 (32%): sustained atrioventricular tachycardia (n = 2), atrial fibrillation (n = 2), nonsustained atrial tachycardia (n = 1), premature supraventricular complexes (n = 1), and unexplained sinus bradycardia (n = 1)...
September 6, 2016: Neurology
Jun Fu, Yi-Ming Zheng, Su-Qin Jin, Jun-Fei Yi, Xiu-Juan Liu, He Lyn, Zhao-Xia Wang, Wei Zhang, Jiang-Xi Xiao, Yun Yuan
BACKGROUND: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. METHODS: Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study...
August 5, 2016: Chinese Medical Journal
V A Kuttappan, B M Hargis, C M Owens
Myopathies are gaining the attention of poultry meat producers globally. White Striping (WS) is a condition characterized by the occurrence of white striations parallel to muscle fibers on breast, thigh, and tender muscles of broilers, while Woody Breast (WB) imparts tougher consistency to raw breast fillets. Histologically, both conditions have been characterized with myodegeneration and necrosis, fibrosis, lipidosis, and regenerative changes. The occurrence of these modern myopathies has been associated with increased growth rate in birds...
November 1, 2016: Poultry Science
Rudolf A Kley, Montse Olivé, Rolf Schröder
PURPOSE OF REVIEW: Myofibrillar myopathies (MFMs) are hereditary muscle disorders characterized by distinct histopathological features. This review provides an overview of recent research with respect to new disease genes, clinical phenotypes, insights into pathomechanisms and therapeutic strategies. RECENT FINDINGS: Beyond the known disease genes DES, FLNC, MYOT, CRYAB, ZASP, BAG3, FHL1 and TTN, mutations in PLEC, ACTA1, HSPB8 and DNAJB6 have also been associated with a MFM phenotype...
October 2016: Current Opinion in Neurology
Josef Finsterer, Sinda Zarrouk-Mahjoub
INTRODUCTION: Weakness is one of the predominant clinical manifestations of neuromuscular disorders (NMDs), which strongly influences daily life, prognosis, and outcome of affected patients. One of the major therapeutic goals in NMD-patients is to completely resolve muscle weakness. Various treatment options are available and include physical therapy, electrotherapy, diet, drugs, avoidance or withdrawal of muscle-toxic and weakness-inducing agents, detoxification, stem-cell-therapy, plasma-exchange, respiratory therapy, or surgery...
July 13, 2016: Expert Review of Neurotherapeutics
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan
Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait...
2016: Case Reports in Neurological Medicine
Mohamed Kazamel, Eric J Sorenson, Margherita Milone
OBJECTIVE: To compare the clinical and electrophysiological findings in hereditary inclusion body myopathy (hIBM) and sporadic inclusion body myositis (sIBM) patients. METHODS: We retrospectively identified 8 genetically proven hIBM patients and 1 DNAJB6 myopathy with pathological features of hIBM, and compared their clinical, electromyographic, and serological data with a group of 51 pathologically proven sIBM patients. RESULTS: hIBM patients had a younger mean age of onset (36 vs...
June 2016: Journal of Clinical Neuromuscular Disease
Tracey Willis, Carola Hedberg-Oldfors, Zoya Alhaswani, Richa Kulshrestha, Caroline Sewry, Anders Oldfors
Myosin heavy chain (MyHC) is a major structural component of the striated muscle contractile apparatus. In adult human limb skeletal muscle, there are three major MyHC isoforms, slow/beta cardiac MyHC, MyHC IIa and MHC IIx, which are important for the functional characteristics of different muscle fiber types. Hereditary myosin myopathies have emerged as an important group of diseases with variable clinical and morphological expression dependent on the mutated isoform, and also the type and location of the mutation...
July 2016: Journal of Neurology
Dorit Bennmann, Wenke Weidemann, Annett Thate, Denise Kreuzmann, Rüdiger Horstkorte
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconjugates and gangliosides, which have an essential influence on various cell interactions. The sialylation of proteins varies during development, aging, and pathogenesis of degenerative diseases such as Morbus Alzheimer, diabetes mellitus type II, or myopathies. Mutation of methionine 743 in the GNE leads to a 30% reduction of the enzyme activity and is responsible for an aggressive form of GNE myopathy...
June 2016: FEBS Journal
Biplab Das, Manoj Kumar Goyal, Sanat Ramchandra Bhatkar, Pulikottil Wilson Vinny, Manish Modi, Vivek Lal, N Gayathri, Anitha Mahadevan, Bishan Dass Radotra
BACKGROUND: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM from four families in North India. METHODS AND RESULTS: Seven patients from four different families were diagnosed to have HIBM. There was no consanguinity in any of the families. While one patient had two affected siblings, another had one affected siblings and the family history was noncontributory in two patients...
January 2016: Annals of Indian Academy of Neurology
L Ten Dam, A J van der Kooi, C Verhamme, M P Wattjes, M de Visser
In this review we discuss the use of conventional (computed tomography, magnetic resonance imaging, ultrasound) and advanced muscle imaging modalities (diffusion tensor imaging, magnetic resonance spectroscopy) in hereditary and acquired myopathies. We summarize the data on specific patterns of muscle involvement in the major categories of muscle disease and provide recommendations on how to use muscle imaging in this field of neuromuscular disorders.
April 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Chiara Scotton, Matteo Bovolenta, Elena Schwartz, Maria Sofia Falzarano, Elena Martoni, Chiara Passarelli, Annarita Armaroli, Hana Osman, Carmelo Rodolico, Sonia Messina, Elena Pegoraro, Adele D'Amico, Enrico Bertini, Francesca Gualandi, Marcella Neri, Rita Selvatici, Patrizia Boffi, Maria Antonietta Maioli, Hanns Lochmüller, Volker Straub, Katherine Bushby, Tiziana Castrignanò, Graziano Pesole, Patrizia Sabatelli, Luciano Merlini, Paola Braghetta, Paolo Bonaldo, Paolo Bernardi, Reghan Foley, Sebahattin Cirak, Irina Zaharieva, Francesco Muntoni, Daniele Capitanio, Cecilia Gelfi, Ekaterina Kotelnikova, Anton Yuryev, Michael Lebowitz, Xiping Zhang, Brian A Hodge, Karyn A Esser, Alessandra Ferlini
Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1(-/-)) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1(-/-)mice and patients with collagen VI pathology...
April 15, 2016: Journal of Cell Science
Hana Kolarova, Petra Liskova, Marketa Tesarova, Vendula Kucerova Vidrova, Martin Forgac, Josef Zamecnik, Hana Hansikova, Tomas Honzik
BACKGROUND: Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) syndromes are mitochondrially inherited disorders characterized by acute visual failure and variable multiorgan system presentation, respectively. MATERIALS AND METHODS: A 12-year-old girl with otherwise unremarkable medical history presented with abrupt, painless loss of vision. Over the next few months, she developed moderate sensorineural hearing loss, vertigo, migraines, anhedonia and thyroiditis...
February 19, 2016: Ophthalmic Genetics
Zhaoxia Wang, Daojun Hong, Wei Zhang, Wurong Li, Xin Shi, Danhua Zhao, Xu Yang, He Lv, Yun Yuan
Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation. Most patients with late-onset MADD are clinically characterized by lipid storage myopathy with dramatic responsiveness to riboflavin treatment. Abnormalities of peripheral neuropathy have rarely been reported in patients with late-onset MADD. We describe six patients who presented with proximal limb weakness and loss of sensation in the distal limbs. Muscle biopsy revealed typical myopathological patterns of lipid storage myopathy and blood acylcarnitine profiles showed a combined elevation of multiple acylcarnitines supporting the diagnosis of MADD...
February 2016: Neuromuscular Disorders: NMD
Dennis Lal, Bernd A Neubauer, Mohammad R Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel
Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. Here, we describe the illustrative case of a single consanguineous family where this strategy suffered from the difficulty to distinguish between two etiologically distinct disorders, namely the co-occurrence of hereditary hypophosphatemic rickets (HRR) and congenital myopathies (CM), by their phenotypic manifestation alone...
2016: PloS One
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