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Congenital muscular dystrophy

Jonathan H Norris, Natasha M Longmire, Sarah Kilcoyne, David Johnson, Ray Fitzpatrick, Anne F Klassen
Background: There is currently a mandate globally to incorporate patient's perceptions of their illness into outcome measures, in order to provide a deeper insight into medical practice. Facial nerve palsy (FNP) is a devastating condition that can significantly impact quality of life. However, no measure currently exists that comprehensively assesses outcome in FNP using patient perception. The aim of this study is to explore patients' experiences of FNP with the aim of informing the development of a patient-reported outcome measure...
January 2019: Plastic and Reconstructive Surgery. Global Open
Alexandra Breukel, Raffaella Willmann, George Padberg, Ellen Sterrenburg, Ingeborg Meijer
Since 1992, the European Neuromuscular Centre facilitated workshops to bring experts in the field of neuromuscular disorders together. After organising more than 235 workshops, it is time to evaluate what impact these 25 years of ENMC workshops have had on the neuromuscular research field and on people affected by a neuromuscular condition. To measure this, workshop topics were retrospectively evaluated and bibliometric analyses on the citation scores of ENMC-derived publications were performed. In addition, a personalized survey was used to investigate the actual achievement and implementation of workshop deliverables...
February 7, 2019: Neuromuscular Disorders: NMD
Saleh Omairi, Kwan-Leong Hau, Henry Collins-Hooper, Charlotte Scott, Sakthivel Vaiyapuri, Silvia Torelli, Federica Montanaro, Antonios Matsakas, Ketan Patel
The dystrophin-glycoprotein complex (DGC) links the muscle cytoskeleton to the extracellular matrix and is responsible for force transduction and protects the muscle fibres from contraction induced damage. Mutations in components of the DGC are responsible for muscular dystrophies and congenital myopathies. Expression of DGC components have been shown to be altered in many myopathies. In contrast we have very little evidence of whether adaptive changes in muscle impact on DGC expression. In this study we investigated connection between muscle fibre phenotype and the DGC...
February 26, 2019: Scientific Reports
Giselle A Joseph, Margaret Hung, Aviva J Goel, Mingi Hong, Marysia-Kolbe Rieder, Noam D Beckmann, Madhavika N Serasinghe, Jerry E Chipuk, Parvathi M Devarakonda, David J Goldhamer, Paulina Aldana-Hernandez, Jonathan Curtis, René L Jacobs, Robert S Krauss
BACKGROUND: Group I Paks are serine/threonine kinases that function as major effectors of the small GTPases Rac1 and Cdc42, and they regulate cytoskeletal dynamics, cell polarity, and transcription. We previously demonstrated that Pak1 and Pak2 function redundantly to promote skeletal myoblast differentiation during postnatal development and regeneration in mice. However, the roles of Pak1 and Pak2 in adult muscle homeostasis are unknown. Choline kinase β (Chk β) is important for adult muscle homeostasis, as autosomal recessive mutations in CHKβ are associated with two human muscle diseases, megaconial congenital muscular dystrophy and proximal myopathy with focal depletion of mitochondria...
February 21, 2019: Skeletal Muscle
Shinji Takeyari, Satoshi Takakuwa, Kei Miyata, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Takuo Kubota, Noriyuki Namba, Norio Sakai, Keiichi Ozono
Congenital generalized lipodystrophy type 4 (CGL4) is a rare disease caused by mutations in the gene polymerase I and transcript release factor ( PTRF ), the main symptoms of which are systemic reductions in adipose tissue and muscular dystrophy. The strategy of treating CGL4 is to improve the insulin resistance and hypertriglyceridemia that result from systemic reductions in adipose tissue. Metreleptin, a synthetic analog of human leptin, is effective against generalized lipodystrophies; however, there are no reports of the use of metreleptin in the treatment of CGL4...
2019: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
Daniel C Helbling, David Mendoza, Julie McCarrier, Mark A Vanden Avond, Matthew M Harmelink, Paul E Barkhaus, Donald Basel, Michael W Lawlor
The phenotypes associated with pathogenic variants in the ryanodine receptor 1 gene (RYR1, OMIM# 180901) have greatly expanded over the last few decades as genetic testing for RYR1 variants has become more common. Initially described in association with malignant hyperthermia, pathogenic variants in RYR1 are typically associated with core pathology in muscle biopsies (central core disease or multiminicore disease) and symptomatic myopathies with symptoms ranging from mild weakness to perinatal lethality. We describe a 2-week-old male patient with multiple congenital dysmorphisms, severe perinatal weakness, and subsequent demise, whose histopathology on autopsy was consistent with congenital muscular dystrophy...
February 4, 2019: Journal of Neuropathology and Experimental Neurology
X Y Peng, Y J Qu, F Song, X F Sun, X S Ge, H Jiao
Objective: To summarize the clinical manifestations and determine the molecular etiology for two collagen type Ⅵ-related myopathy pedigrees. Methods: Two spontaneous collagen type Ⅵ-related myopathy patients were admitted to Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in October 2017. Clinical data of probands and their family members were collected and their genomic DNA was obtained for genetic testing. Next generation sequencing was performed and the variants were verified by the Sanger sequencing in the family members...
February 2, 2019: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Alice Theadom, Miriam Rodrigues, Gemma Poke, Gina O'Grady, Donald Love, Graeme Hammond-Tooke, Priya Parmar, Ronelle Baker, Valery Feigin, Kelly Jones, Braden Te Ao, Anna Ranta, Richard Roxburgh
BACKGROUND: Previous epidemiological studies of genetic muscle disorders have relied on medical records to identify cases and may be at risk of selection biases or have focused on selective population groups. OBJECTIVES: This study aimed to determine age-standardised prevalence of genetic muscle disorders through a nationwide, epidemiological study across the lifespan using the capture-recapture method. METHODS: Adults and children with a confirmed clinical or molecular diagnosis of a genetic muscle disorder, resident in New Zealand on April 1, 2015 were identified using multiple overlapping sources...
January 18, 2019: Neuroepidemiology
Tamao Endo
Glycosylation is an important posttranslational modification in mammals. The glycans of glycoproteins are classified into two groups, namely, N-glycans and O-glycans, according to their glycan-peptide linkage regions. Recently, O-mannosyl glycan, an O-glycan, has been shown to be important in muscle and brain development. A clear relationship between O-mannosyl glycans and the pathomechanisms of some congenital muscular dystrophies has been established in humans. Ribitol-5-phosphate is a newly identified glycan component in mammals, and its biosynthetic pathway has been elucidated...
2019: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
Heike Kölbel, Angela Abicht, Oliver Schwartz, Istvan Katona, Werner Paulus, Eva Neuen-Jacob, Joachim Weis, Ulrike Schara
AIMS: To define the neurological and neuropathological alterations caused by SYNE1 mutations. METHODS: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. RESULTS: Three different phenotypes were discerned. Two patients showed progressive ataxia, mental retardation, neuropathy and radially deviated thumbs (spinocerebellar ataxia, SCAR, type 8 phenotype)...
December 29, 2018: European Journal of Paediatric Neurology: EJPN
Woori Jang, Yonggoo Kim, Eunhee Han, Joonhong Park, Hyojin Chae, Ahlm Kwon, Hayoung Choi, Jiyeon Kim, Jung Ok Son, Sang Jee Lee, Bo Young Hong, Dae Hyun Jang, Ji Yoon Han, Jung Hyun Lee, So Young Kim, In Goo Lee, In Kyung Sung, Yeonsook Moon, Myungshin Kim, Joo Hyun Park
BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). METHODS: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients...
May 2019: Annals of Laboratory Medicine
Mohamed Kazamel, Margherita Milone
Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type 1 and type 2 fibers. Most cases of multiminicore disease typically present with early-onset axial weakness, respiratory insufficiency, scoliosis, and rigid spine. There is no correlation between the frequency of minicores and clinical severity. Multiminicore disease is genetically heterogeneous and can result from recessive or dominant mutations...
January 3, 2019: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Alasdair J Wood, Naomi Cohen, Veronica Joshi, Mei Li, Adam Costin, Lucy Hersey, Emily A McKaige, Jessica D Manneken, Carmen Sonntag, Lee B Miles, Ashley Siegel, Peter D Currie
Deficiency of muscle basement membrane (MBM) component laminin-α2, leads to muscular dystrophy congenital type 1a MDC1a, a currently untreatable myopathy. Laminin-α2 has two main binding partners within the MBM, dystroglycan and integrin. Integrins co-ordinate both cell adhesion and signalling, however there is little mechanistic insight into integrin's function at the MBM. In order to study integrin's role in basement membrane development and how this relates to the MBM's capacity to handle force, an itgβ1...
December 19, 2018: Human Molecular Genetics
Burcu Balci-Hayta, Beril Talim, Gulsev Kale, Pervin Dincer
BACKGROUND: Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses. An important enzyme, known as Like-acetylglucosaminyltransferase (LARGE), has been shown to transfer repeating units of -glucuronic acid-β1,3-xylose-α1,3- (matriglycan) to αDG that is required for functional receptor as an extracellular matrix protein scaffold. The reduction in the amount of LARGE-dependent matriglycan result in heterogeneous forms of dystroglycanopathy that is associated with hypoglycosylation of αDG and a consequent lack of ligand-binding activity...
December 15, 2018: BMC Neurology
Markus T Sainio, Salla Välipakka, Bruno Rinaldi, Helena Lapatto, Anders Paetau, Simo Ojanen, Virginia Brilhante, Manu Jokela, Sanna Huovinen, Mari Auranen, Johanna Palmio, Sylvie Friant, Emil Ylikallio, Bjarne Udd, Henna Tyynismaa
OBJECTIVE: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy. METHODS: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. A yeast complementation assay was used to determine the biochemical consequences of the genetic variants...
December 4, 2018: Journal of Neurology
Daniel Schmidtke, Charlotte Lempp, Marko Dubicanac, Ute Radespiel, Elke Zimmermann, Wolfgang Baumgärtner, Sabine Kästner, Martin Meier, Anne Balkema-Buschmann, R Alan Harris, Muthuswamy Raveendran, Donna M Muzny, Kim C Worley, Jeffrey Rogers
Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (Microcebusmurinus), a small NHP species for which the genomic sequence recently became available. The female lemur we present heredied on postnatal day 125. This lemur had impaired development of motor skills and showed severe ataxia and tremors. In addition, hearing seemed normal whereas ophthalmic examination revealed incipient bilateral cataracts, abnormal pigmentation in the lens of the left eye, and a missing optokinetic nystagmus, which indicated impaired vision...
November 28, 2018: Comparative Medicine
Wei-Tsun Kao, Yung-Hao Tseng, Yuh-Jyh Jong, Tai-Heng Chen
BACKGROUND: No previous studies have explored emergency medical care for children with chronic neuromuscular disorders (NMDs). We aimed to determine the major reasons for the emergency room (ER) readmission of pediatric patients with NMDs and suggest changes to the care plan to decrease readmissions. METHODS: Children with chronic NMDs (aged <18 years) who visited a medical center-based ER between January 2005 and January 2015 were included. The following data were extracted from the patient's ER records: presentations; demographic data, including sex and age; NMD diagnosis; triage classification; emergency examination; initial management and outcomes...
October 2, 2018: Pediatrics and Neonatology
Pengzhi Hu, Lamei Yuan, Hao Deng
Protein O-mannosyltransferase 1 (POMT1) is a critical enzyme participating in the first step of protein O-mannosylation. Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a broad phenotypic spectrum of congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy, accompanied by variable degrees of intellectual disability, brain defects, and ocular abnormalities...
October 2018: Mutation Research
Bernardo Moreira Soares Oliveira, Kinga I Gawlik, Madeleine Durbeej, Johan Holmberg
Circulating microRNAs (miRNAs) are being considered as non-invasive biomarkers for disease progression and clinical trials. Congenital muscular dystrophy with deficiency of laminin α2 chain (LAMA2-CMD) is a very severe form of muscular dystrophy, for which no treatment is available. In order to identify LAMA2-CMD biomarkers we have profiled miRNAs in urine from the dy2J / dy2J mouse model of LAMA2-CMD at three distinct time points (representing asymptomatic, initial and established disease). We demonstrate that unique groups of miRNAs are differentially expressed at each time point...
August 27, 2018: PLoS Currents
Heather B Steele-Stallard, Luca Pinton, Shilpita Sarcar, Tanel Ozdemir, Sara M Maffioletti, Peter S Zammit, Francesco Saverio Tedesco
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA . The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the inner nuclear membrane. Laminopathies show striking tissue specificity, with subtypes affecting striated muscle, peripheral nerve, and adipose tissue, while others cause multisystem disease with accelerated aging. Although several pathogenic mechanisms have been proposed, the exact pathophysiology of laminopathies remains unclear, compounded by the rarity of these disorders and lack of easily accessible cell types to study...
2018: Frontiers in Physiology
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