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Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Magdalena Mroczek, Dagmara Kabzińska, Krystyna H Chrzanowska, Maciej Pronicki, Andrzej Kochański
To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated with distinctive facial dysmorphic features and distal arthrogryposis. Using the whole exome sequencing (WES) approach we were able to identify a novel heterozygous splice-site mutation within the TPM2 gene, showing the utility of WES in molecular diagnostics of congenital myopathies without recognizable morphological hallmarks...
October 10, 2016: Journal of Applied Genetics
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
Adriana Suely de Oliveira Melo, Renato Santana Aguiar, Melania Maria Ramos Amorim, Monica B Arruda, Fabiana de Oliveira Melo, Suelem Taís Clementino Ribeiro, Alba Gean Medeiros Batista, Thales Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, Luciana Portela Rabello, Clarissa Emanuelle Gonzaga, Gustavo Malinger, Renato Ximenes, Patricia Soares de Oliveira-Szejnfeld, Fernanda Tovar-Moll, Leila Chimelli, Paola Paz Silveira, Rodrigo Delvechio, Luiza Higa, Loraine Campanati, Rita M R Nogueira, Ana Maria Bispo Filippis, Jacob Szejnfeld, Carolina Moreira Voloch, Orlando C Ferreira, Rodrigo M Brindeiro, Amilcar Tanuri
Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil...
October 3, 2016: JAMA Neurology
B Salazard, C Philandrianos, B Tekpa
"Palsy of the upper limb" in children includes various diseases which leads to hypomobility of the member: cerebral palsy, arthrogryposis and obstetrical brachial plexus palsy. These pathologies which differ on brain damage or not, have the same consequences due to the early achievement: negligence, stiffness and deformities. Regular entire clinical examination of the member, an assessment of needs in daily life, knowledge of the social and family environment, are key points for management. In these pathologies, the rehabilitation is an emergency, which began at birth and intensively...
October 2016: Annales de Chirurgie Plastique et Esthétique
Christopher Smith, Jillian S Parboosingh, Kym M Boycott, Carsten G Bönnemann, Jean K Mah, Ryan E Lamont, A Micheil Innes, Francois P Bernier
Mutations in GLE1 cause two recessive subtypes of Arthrogryposis Multiplex Congenita (AMC), a condition characterized by joint contractures at birth, and all previously reported patients died in the perinatal period. GLE1 related AMC has been almost exclusively reported in the Finnish population and is caused by a relatively common pathogenic splicing mutation in that population. Here, we report two non-Finnish brothers with novel compound heterozygous splicing mutations in GLE1, one of whom has survived to 12 years of age...
September 29, 2016: Clinical Genetics
Janelle Geist, Aikaterini Kontrogianni-Konstantopoulos
Myosin Binding Protein-C (MyBP-C) comprises a family of accessory proteins that includes the cardiac, slow skeletal, and fast skeletal isoforms. The three isoforms share structural and sequence homology, and localize at the C-zone of the sarcomeric A-band where they interact with thick and thin filaments to regulate the cycling of actomyosin crossbridges. The cardiac isoform, encoded by MYBPC3, has been extensively studied over the last several decades due to its high mutational rate in congenital hypertrophic and dilated cardiomyopathy...
2016: Frontiers in Physiology
Shenhao Dai, Marie Jaeger, Pierre Simon Jouk, Dominic Pérennou, Klaus Dieterich
OBJECTIVE: Arthrogryposis multiplex congenita (AMC) is a clinical diagnosis characterized by the presence of at least two joint contractures at birth. Causes of AMC are numerous involving CNS, neuromuscular system, connective and bone tissue. This study is the first to describe disability patterns of a cohort of adults with AMC. MATERIALS/PATIENTS AND METHODS: Thirty-nine patients (age 33.8±11.5 years; 23 females) underwent between 2010 and 2016 a 4 day evaluation in the PMR ward during the multidisciplinary consultations for AMC at the Reference Centre of Congenital Anomalies in Grenoble: 25 with amyoplasia, 8 with distal arthrogryposis (DA), and 6 with other atypical diseases...
September 2016: Annals of Physical and Rehabilitation Medicine
Manoel Sarno, Marcelo Aquino, Kleber Pimentel, Renata Cabral, Gisela Costa, Fernanda Bastos, Carlos Brites
OBJECTIVE: Our aim was to describe the pattern and progression of Central Nervous System (CNS) lesions of microcephalic fetuses with suspected Zika Virus (ZIKV) infection. METHODS: We analyzed fetuses diagnosed with microcephaly after a routine primary care ultrasound scan suspect a fetal microcephaly in Salvador, Brazil, from July/2015 to February/2016 and these pregnancies were followed until delivery. Microcephaly was diagnosed when the head circumference was below two or more standard deviation for gestational age and its relationship with ZIKV infection was defined according to World Health Organization criteria...
September 19, 2016: Ultrasound in Obstetrics & Gynecology
(no author information available yet)
Research has shown a possible link between Zika virus infection in the womb and arthrogryposis - a condition that causes joint deformities at birth, particularly in the arms and legs.
August 24, 2016: Nursing Standard
C Druschel, K Heck, C Kraft, R Placzek
OBJECTIVE: PemberSal osteotomy to improve femoral head coverage by rotating the acetabular roof ventrally and laterally. INDICATIONS: Insufficient coverage of the femoral head, and can be combined with other surgical procedures such as femoral intertrochanteric varus-derotation osteotomy and open reduction for developmental dysplasia and dislocation of the hip or to improve sphericity and containment in Legg-Calvé-Perthes disease. This specific acetabuloplasty can only be performed in patients with an open epiphyseal growth-plate...
September 14, 2016: Operative Orthopädie und Traumatologie
Kesavan Sadacharam, Mian Ahmad
No abstract text is available yet for this article.
July 2016: Journal of Anaesthesiology, Clinical Pharmacology
Jillian Casey, Karen Flood, Sean Ennis, Emma Doyle, Michael Farrell, Sally Ann Lynch
OBJECTIVE: To determine the underlying molecular aetiology in a non-consanguineous Irish family who have had three fetal losses because of a primary myopathy characterised by fetal akinesia, arthrogryposis multiplex, bilateral pulmonary hypoplasia and reduced muscle bulk. METHODS: Fetal DNA extracted from amniotic cells was whole genome amplified and subjected to whole exome sequencing. RESULTS: Whole exome sequencing identified compound heterozygous variants in RYR1 as the cause of the lethal myopathy in this family...
September 12, 2016: Prenatal Diagnosis
Jérôme Maluenda, Constance Manso, Loic Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzales, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, Romulus Grigorescu, Anne Dieux Coeslier, Marta Gut, Ivo Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule involved in the formation of the nodes of Ranvier. Transmission electron microscopy of the sciatic nerve from one of the affected individuals showed a marked lengthening defect of the nodes...
October 6, 2016: American Journal of Human Genetics
A A Mahmud, N A Nahid, C Nassif, M S B Sayeed, M U Ahmed, M Parveen, M I Khalil, M M Islam, Z Nahar, F Rypens, F F Hamdan, G A Rouleau, A Hasnat, J L Michaud
Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. Some observations suggest that these dominant mutations induce a gain-of-function effect on the channel. Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with dominant mutations in PIEZO2...
September 8, 2016: Clinical Genetics
Justin C Paul, Baron S Lonner, Shaleen Vira, David Feldman, Thomas J Errico
STUDY DESIGN: Retrospective cohort study of spine fusion surgery utilizing the New York State Inpatient Database. OBJECTIVE: The objective was to determine whether there were differences in reoperation rates among pediatric scoliosis associated with various etiologies compared with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: The incidence of postoperative complications and reoperations is known to vary among patients with diverse scoliosis pathologies...
September 3, 2016: Journal of Pediatric Orthopedics
Judith G Hall, Jeff Kiefer
Arthrogryposis by definition has multiple congenital contractures. All types of arthrogryposis have decreased in utero fetal movement. Because so many things are involved in normal fetal movement, there are many causes and processes that can go awry. In this era of molecular genetics, we have tried to place the known mutated genes seen in genetic forms of arthrogryposis into biological processes or cellular functions as defined by gene ontology. We hope this leads to better identification of all interacting pathways and processes involved in the development of fetal movement in order to improve diagnosis of the genetic forms of arthrogryposis, to lead to the development of molecular therapies, and to help better define the natural history of various types of arthrogryposis...
July 2016: Molecular Syndromology
Lokesh Lingappa, Nikit Shah, Ananth Sagar Motepalli, Farhan Shaik
Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2)...
July 2016: Annals of Indian Academy of Neurology
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
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