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Total 496 results found since Jan 2013.
P.4.1 PIP kinases, muscle development, and the pathogenesis of myotubular myopathy
Myotubular myopathy (MTM) is a severe congenital myopathy with no currently identified treatment. MTM is caused by mutations in MTM1, a phosphatase that dephosphorylates 3-position phosphoinositides. Through the use of vertebrate model systems, the consequences (s) of MTM1 mutation in skeletal muscle in vivo are beginning to be unraveled. In particular, work from several laboratories (including our own) has demonstrated that loss of MTM1 (1) increases the levels of PI3P in skeletal muscle and (2) results in the disruption of the structure and function of the EC coupling apparatus. Based on these data, one hypothesis to exp...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A. Reifler, D. Michele, A. Archambeau, X. Li, J.J. Dowling Source Type: research
Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy
Myotubular myopathy (MTM) is an X-linked form of centronuclear myopathy associated with severe disabilities, including wheelchair and ventilator dependence, and early mortality. It results from a mutation in the PIP phosphatase MTM1, and as such is the prototypical disorder of phosphoinositide (PIP) metabolism. At present there is no cure nor any disease modifying therapies for this devastating disorder. Our goal is to develop new treatment approaches for MTM. We have previously shown phosphatidylinositol-3-phosphate (PI3P) accumulation in MTM animal models, and hypothesized that lowering PI3P levels may be an effective th...
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: N. Sabha, J. Volpatti, H. Gonorazky, A. Reifler, A. Davidson, A. Buj-Bello, E. Feldman, J. Dowling Source Type: research
A natural history study of X-linked myotubular myopathy
Conclusions:
MTM is one of the most severe neuromuscular disorders, with affected individuals requiring extensive mechanical interventions for survival. However, among study participants, the disease course was more stable than predicted, with more individuals surviving infancy and early childhood. These data reflect the disease burden of MTM but offer hope in terms of future therapeutic intervention.
Source: Neurology - September 25, 2017 Category: Neurology Authors: Amburgey, K., Tsuchiya, E., de Chastonay, S., Glueck, M., Alverez, R., Nguyen, C.-T., Rutkowski, A., Hornyak, J., Beggs, A. H., Dowling, J. J. Tags: Muscle disease, Natural history studies (prognosis) ARTICLE Source Type: research
Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios
The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Abstract
BACKGROUND: Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU.
METHODS: We retrospectively identified and prospectively recruited newborns and infants admitted to th...
Source: cmaj - May 29, 2016 Category: Journals (General) Authors: Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA Tags: CMAJ Source Type: research
Congenital myopathies 2
Myotubular myopathy (MTM) is a devastating childhood muscle disease associated with severe disabilities and early death. Maani et al (2018)., recently identified tamoxifen as a novel therapeutic candidate for MTM that improves muscle structure, strength and prolongs survival in MTM mice through modulation of dynamin-2 (DNM2), a known disease modifier. As clinical trials for tamoxifen in MTM are imminent, there remains a need for a reliable, non-invasive biomarker to reflect disease severity and treatment response, facilitating disease monitoring and testing of novel therapies.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: N. Maani, N. Sabha, D. Gustafson, A. Ramani, J. Fish, M. Alexander, J. Dowling Source Type: research
Immune-Mediated Necrotizing Myopathy
AbstractPurpose of ReviewImmune-mediated necrotizing myopathy (IMNM) is a type of autoimmune myopathy characterized by relatively severe proximal weakness, myofiber necrosis with minimal inflammatory cell infiltrate on muscle biopsy, and infrequent extra-muscular involvement. Here, we will review the characteristics of patients with IMNM.Recent FindingsAnti-signal recognition particle (SRP) and anti-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) autoantibodies are closely associated with IMNM and define unique subtypes of patients. Importantly, the new European Neuromuscular Centre criteria recognize anti-SRP myopathy, ant...
Source: Current Rheumatology Reports - March 26, 2018 Category: Rheumatology Source Type: research
A study of acute muscle dysfunction with particular reference to dengue myopathy
Conclusion: Dengue infection and hypokalemia due to various causes are the most common causes of acute myopathy and are associated with rapid and complete recovery within 1 month. Shorter duration of illness, higher MRC sum score, better disability status at presentation, lower serum CK correlate with better outcome. Biopsy was decisive in <20% cases; hence, it is not primary investigation in acute myopathy.
Source: Annals of Indian Academy of Neurology - February 8, 2017 Category: Neurology Authors: Rajesh Verma Vikram V Holla Vijay Kumar Amita Jain Nuzhat Husain Kiran Preet Malhotra Ravindra Kumar Garg Hardeep Singh Malhotra Praveen Kumar Sharma Neeraj Kumar Source Type: research
Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report
Conclusion
Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10
Reference...
Source: Innovations in Clinical Neuroscience - October 9, 2015 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research
P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence
GNE myopathy or hereditary inclusion body myopathy (HIBM) is an autosomal recessive myopathy presenting with distal leg weakness in early adulthood. Progressive weakness results in greater dependence and disability over time. A disease-specific measurement of functional activity is needed to better understand the burden of illness, inform the design of clinical studies and optimize care. After clinical interview of patients, a 25-item questionnaire was developed to assess ability and independence in three domains: mobility, upper extremity (UE) use and self-care. Each item was rated from 0 to 4 with higher scores represent...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A.M. Skrinar, Z. Argov, Y. Caraco, E. Kolodny, H. Lau, A. Pestronk, P. Shieh, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, E. Fowler, M. Greenberg, E. Malkus, O. Rebibo, C. Siener, J.E. Mayhew Source Type: research
Disease Progression of GNE Myopathy (P2.046)
CONCLUSIONS: The GNE progression model is a novel and valuable tool for drug development in GNE myopathy and can be applied to other progressive muscle diseases with longitudinal strength data.Disclosure: Dr. Quintana has nothing to disclose. Dr. Shrader has nothing to disclose. Dr. Joe has nothing to disclose. Dr. Fitzgerald has nothing to disclose. Dr. Gahl has nothing to disclose. Dr. McKew has nothing to disclose. Dr. Berry has received personal compensation for activities with Stryker. Dr. Carrillo-Carrasco has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Quintana, M., Shrader, J., Joe, G., Fitzgerald, M., Gahl, W., McKew, J., Berry, S., Carrillo-Carrasco, N. Tags: Muscle Disease: Genetics, Pathogenesis, and Pathology Source Type: research
Chloroquine and Hydroxychloroquine Myopathy: Clinical Spectrum and Treatment Outcomes
Chloroquine (CQ) and hydroxychloroquine (HCQ) have been associated with muscle toxicity, mostly described as a proximal myopathy with evidence of lysosomal dysfunction on muscle biopsy. In this retrospective study, we aimed to define the clinical phenotype, laboratory features, and treatment outcomes of CQ/HCQ myopathy, as well as the safety profile of these drugs. We identified 13 patients seen between 2000 and 2019, with a median age at presentation of 66 years (range 53–89); 11 were females. At onset of symptoms, patients were on CQ or HCQ for a minimum of 6 months and up to 21 years. Diagnosis was often delayed by a ...
Source: Frontiers in Neurology - February 2, 2021 Category: Neurology Source Type: research
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. We investigated recessive mutations in a Korean family with two individuals affected by IOSCA. Causative mutations were investigated using whole exome sequencing. Electrophysiological analyses and muscle and nerve biopsies were performed, along with magnetic resonance imaging (MRI) of the brain and lower extremities. Compound heterozygous mutations c.1460C>T and c.1485-1G>A in C10orf2 were identified as causative of IOSCA. Skeletal muscle showed mitochondrial DNA (mtDN...
Source: Neurogenetics - August 1, 2014 Category: Genetics & Stem Cells Source Type: research
