AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
Myotonic DystrophyMuscular DystrophiesMuscular Atrophy, SpinalMuscular Dystrophy, DuchenneSpinal Muscular Atrophies of ChildhoodMuscular Dystrophy, AnimalSurvival of Motor Neuron 1 ProteinAtrophySMN Complex ProteinsMuscular AtrophySurvival of Motor Neuron 2 ProteinDystrophinSpinal CordMuscular Dystrophies, Limb-GirdleMuscular Dystrophy, FacioscapulohumeralMice, Inbred mdxMuscular Dystrophy, Emery-DreifussSarcoglycansMuscular Disorders, AtrophicBulbo-Spinal Atrophy, X-LinkedMuscle, SkeletalCorneal Dystrophies, HereditarySpinal Cord InjuriesDystroglycansMuscular Dystrophy, OculopharyngealNeuronal Apoptosis-Inhibitory ProteinUtrophinCyclic AMP Response Element-Binding ProteinMotor NeuronsAnterior Horn CellsRNA-Binding ProteinsPedigreeExonsHeterozygote DetectionDisease Models, AnimalNerve Tissue ProteinsFuchs' Endothelial DystrophySpinal Cord DiseasesThymopoietinsRetinal DystrophiesMutationCollagen Type VIMusclesPhenotype
DuchenneLimb-girdle muFacioscapulohumeralBeckerDisordersMyotoniaMyopathiesNeuromuscular diseasesCharcot-MarieWeaknessRespiratoryAmyotrophicCord InjuryClinicMotor neurons2023MutationsDegenerationPatientsAutosomalGeneticDystrophinEndocrineTypeDiagnosisDiseaseClinicalNerveMechanismsGenesMembraneDisorderGroupTreatmentDevelopmentTypesDiseases
Duchenne17
  • Of those, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. (wikipedia.org)
  • Many affected people will eventually become unable to walk and Duchenne muscular dystrophy in particular is associated with shortened life expectancy. (wikipedia.org)
  • The work, co-funded by the Hearst Foundation, is expected to help optimize the effectiveness of exon skipping therapies in Duchenne muscular dystrophy (DMD) . (mda.org)
  • My desire and motivation to pursue a research career investigating therapeutic interventions for Duchenne muscular dystrophy was due in large part to the impact this devastating disease has had on my wife and her family, as she tragically lost her brother to Duchenne and later found out she was also a genetic carrier for the disease. (mda.org)
  • Active current trials include studies for spinal muscular atrophy, Duchenne muscular dystrophy, myotubular myopathy, facioscapulohumeral muscular dystrophy, amyotrophic lateral sclerosis, myasthenia gravis, inclusion body myopathy, and limb girdle muscular dystrophy. (utah.edu)
  • In addition, laboratory-based projects studying genetic and pathologic mechanisms in myotonic dystrophy, Duchenne muscular dystrophy, collagen VI related muscular dystrophy, and facioscapulohumeral muscular dystrophy are ongoing in collaboration with Dr. Robert Weiss, PhD, Department of Human Genetics. (utah.edu)
  • [ 5 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
  • Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)
  • Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). (bvsalud.org)
  • Other expert panel talks included one from Dr. Jeffrey Chamberlain, a pioneer in gene therapy, for treating Duchenne muscular dystrophy (DMD) and Dr. Robert Burgess of the Jackson Laboratory for treating Charcot-Marie-Tooth disease type 2D (CMT2D) . (mdaquest.org)
  • Risk Factors Associated with Incident Vertebral Fractures in Steroid-treated Males with Duchenne Muscular Dystrophy. (lochmullerlab.org)
  • In addition to her work with NGS analysis, Shushu also dedicates herself to individualized mutation correction using CRISPR/Cas9 on Duchenne Muscular Dystrophy (DMD). (cureraredisease.org)
  • Along the same line, Duchenne muscular dystrophy (DMD) -caused by mutations in the dystrophin gene resulting in complete absence or low levels of dystrophin protein 9 - should include a focus on mental and social health. (actamyologica.it)
  • Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy. (institut-myologie.org)
  • Leadless intracardiac transcatheter pacing system: 20 months follow up in adult Duchenne muscular dystrophy. (institut-myologie.org)
  • Patients who have Duchenne dystrophy should be offered prednisone or deflazacort and sometimes exon-skipping treatments using antisense oligonucleotides. (msdmanuals.com)
  • About 70% of Duchenne dystrophy is caused by a single- or multiexon deletion or duplication. (msdmanuals.com)
Limb-girdle mu4
  • Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb-girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several - usually ultrarare - genetic disorders. (wikipedia.org)
  • Limb-girdle muscular dystrophy (LGMD) refers to a group of disorders that manifest as weakness and wasting of arm and leg muscles, with muscles of the shoulders, upper arms, pelvic area, and thighs being most frequently involved. (medscape.com)
  • Mutations in all sarcoglycans, in dysferlin, and in caveolin-3, as well as mutations that cause abnormal glycosylation of alpha-dystroglycan, can result in limb-girdle muscular dystrophy. (medscape.com)
  • Thus, the concept of limb-girdle muscular dystrophy (LGMD) as a nosologic entity was challenged, and now it is fair to consider it a symptom complex that consists of at least 4 disorders with varied inheritance patterns and etiologies. (medscape.com)
Facioscapulohumeral1
  • Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral muscular dystrophy is the most prevalent type of muscular dystrophy. (msdmanuals.com)
Becker3
Disorders7
  • Over 30 different disorders are classified as muscular dystrophies. (wikipedia.org)
  • Single-stranded ASOs show great promise against CNS disorders such as spinal muscular atrophy. (news-medical.net)
  • Patients with muscular dystrophy should be managed through a clinic with access to specialties that address neuromuscular disorders, including physical therapy, occupational therapy, respiratory therapy, speech and swallowing therapy, cardiology, pulmonology, orthopedics, and genetics. (medscape.com)
  • At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
  • In 1954, when Walton and Nattrass reported 105 cases of limb-girdle weakness associated with many other disorders, the nosologic entity of limb-girdle dystrophy was formally established. (medscape.com)
  • An overview of heart rhythm disorders and management in myotonic dystrophy type 1. (institut-myologie.org)
  • It has been used for more than 20 years to prevent the transmission of specific disorders, including autosomal recessive disorders such as cystic fibrosis and autosomal dominant disorders such as myotonic dystrophy. (aacc.org)
Myotonia1
  • The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine. (wikipedia.org)
Myopathies1
  • Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation. (ucl.ac.uk)
Neuromuscular diseases4
  • Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. (wikipedia.org)
  • Maimonides offers comprehensive, personalized care for children and adults living with muscular dystrophy, ALS, and other neuromuscular diseases. (maimo.org)
  • We treat a variety of muscular dystrophy and neuromuscular diseases. (dartmouth-health.org)
  • The Muscular Dystrophy and Neuromuscular Clinic at Children's of Alabama offers a multidisciplinary team approach in the diagnosis, treatment and continuing care of children with neuromuscular diseases. (childrensal.org)
Charcot-Marie1
  • Anand N, Levine DB, Burke S, Bansal M (1997) Neuropathic spinal arthropathy in Charcot-Marie-Tooth disease. (springer.com)
Weakness9
  • Muscular dystrophy is a group of genetic diseases that cause progressive weakness and loss of muscle mass in adults and children. (maimo.org)
  • They described adult patients with a pelvic and femoral distribution of weakness and atrophy with a benign course. (medscape.com)
  • [ 11 ] Walton and Nattrass described the disease as a progressive muscle weakness with atrophy involving predominantly proximal muscles (eg, pelvis, shoulder). (medscape.com)
  • In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. (nih.gov)
  • Weakness and atrophy of muscles and nerves of the arms from the elbows down and legs from the knees down. (globalgenes.org)
  • For example, spinal muscular atrophies (SMAs) are a group of NMDs characterized by alpha motor neuron degeneration in the spinal cord, resulting in muscle atrophy, weakness and paralysis 7 , 8 . (actamyologica.it)
  • The onset and progression of the weakness is quite variable and can be acute, as in the setting of spinal cord injury, or very gradual, as in milder forms of muscular dystrophy. (rcjournal.com)
  • Clinical features of PPS include fatigue, joint and muscle pain, new muscular weakness and bulbar symptoms. (bvsalud.org)
  • The onset of spinal poliomyelitis is associated with myalgia and severe muscle spasms, with the subsequent development of an asymmetrical, predominantly lower limb, flaccid weakness that becomes maximal after 48 h 2 . (bvsalud.org)
Respiratory2
  • Respiratory failure in a patient with VACTERL association and concomitant spinal muscular atrophy. (lochmullerlab.org)
  • For the practitioner of respiratory medicine, a number of other diseases that are not traditionally considered NMDs by neurologists, such as spinal cord injury, stroke, and some central nervous system conditions, may have similar or related respiratory effects, and thus many of the issues discussed in this article may apply to a much larger patient group. (rcjournal.com)
Amyotrophic2
  • Additionally, the effects were confirmed across species and against other neurogenerative disease gene targets such as myotonic dystrophy type 1, Alexander disease and amyotrophic lateral sclerosis. (news-medical.net)
  • Prior to her current appointment Dr. Bishop served as CSO at Tioga Pharmaceuticals, and Vice President of Clinical Development at Ionis Pharmaceuticals, where she provided drug development leadership to a portfolio of programs within the neurology franchise and led clinical stage development programs in Spinal Muscular Atrophy, Myotonic Dystrophy and Amyotrophic Lateral Sclerosis. (myotonic.org)
Cord Injury2
  • Krassioukov A, Alexander MS, Karlsson AK, Donovan W, Mathias CJ, Biering-SØrensen F. International spinal cord injury cardiovascular function basic data set. (nih.gov)
  • Bauman WA, Biering-SØrensen F, Krassioukov A. International spinal cord injury endocrine and metabolic function basic data set. (nih.gov)
Clinic5
  • We are Brooklyn's only Muscular Dystrophy Association (MDA) Clinic, in partnership with SUNY Downstate Health Sciences University, and one of only 250 clinics in the U.S. certified by the MDA, which recognizes the quality of care. (maimo.org)
  • The Muscular Dystrophy Association (MDA) Clinic uses an interdisciplinary team approach to diagnose and care for patients with varying types of muscular dystrophy, a neuromuscular disease. (dartmouth-health.org)
  • A full list of the diseases supported by our clinic can be found on the Muscular Dystrophy Association website. (dartmouth-health.org)
  • To investigate the association between CVD and KOA and their effects on pain and functional status in the elderly at the Rheumatology Clinic of University Medical Center Ho Chi Minh City (HCMC). (bvsalud.org)
  • UK HealthCare's ALS Multidisciplinary Clinic earned accreditation as a Certified Treatment Center of Excellence from the ALS Association. (uky.edu)
Motor neurons1
20232
  • 2023, Muscular Dystrophy Association Inc. All rights reserved. (mda.org)
  • GRANTS PASS, Ore., May 15, 2023 -- On Friday, May 19, for every drink sold, the Dutch Bros Foundation will donate funds to the Muscular Dystrophy Association (MDA). (mda.org)
Mutations1
  • Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins. (wikipedia.org)
Degeneration1
  • In 1891, Erb put forward the concept of muscular dystrophies as a primary degeneration of muscle and coined the term "dystrophia muscularis progressiva. (medscape.com)
Patients2
  • This may be hazardous particularly for patients with lumbar spinal deformity or on blood-thinners. (news-medical.net)
  • Restless legs and periodic limb movement during sleep are found in a large proportion of patients with CMT2, a type of CMT associated with prominent axonal atrophy. (springer.com)
Autosomal2
  • Muscular dystrophies may be X-linked recessive, autosomal recessive, or autosomal dominant. (wikipedia.org)
  • the different muscular dystrophies follow various inheritance patterns (X-linked, autosomal recessive or autosomal dominant). (wikipedia.org)
Genetic5
  • The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. (wikipedia.org)
  • Population Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of State-wide Blood Screening Program. (cdc.gov)
  • and Duke University's Dr. Charles Gersbach on using advanced technologies like the CRISPR/Cas9 gene-editing platform and nanoparticles as delivery devices to treat DMD, myotonic dystrophy type 1 (DM1) , and other NMDs at the genetic level. (mdaquest.org)
  • Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study. (ucl.ac.uk)
  • these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. (nih.gov)
Dystrophin1
  • Dystrophin is an integral part of the muscular structure, an absence of dystrophin can cause impairments such as: healthy muscle tissue can be replaced by fibrous tissue and fat, causing inability to generate force. (wikipedia.org)
Endocrine1
  • The free text field related to "Pre spinal cord lesion endocrine metabolic condition diagnosed type" specifying the other text. (nih.gov)
Type2
Diagnosis1
Disease4
  • The Muscular Dystrophy Association plays so many roles in helping with ALS research and with the quality of life for people living with the disease. (mda.org)
  • He began studying myotonic dystrophy in 2002 when his first undergraduate student at the University of Oregon introduced him to the disease and the impact to his family. (myotonic.org)
  • Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. (nih.gov)
  • For more detailed, up-to-date information about a specific disease, visit the Muscular Dystrophy Association's disease information centers . (globalgenes.org)
Clinical2
  • His previous work showed to the surprise of many that the clinical manifestations of myotonic dystrophy (DM) in men and women were different. (myotonic.org)
  • This honor is awarded to facilities that demonstrate competency meeting the clinical care and treatment standards set forth by the ALS Association. (uky.edu)
Nerve3
  • These nerve cells are found in the spinal cord and the brain. (nih.gov)
  • Restrictive pulmonary impairment has been described in association with phrenic nerve dysfunction, diaphragm dysfunction, or thoracic cage abnormalities. (springer.com)
  • Vocal cord dysfunction, possibly due to laryngeal nerve involvement, is found in association with several CMT types and can often mimic asthma. (springer.com)
Mechanisms1
Genes1
Membrane1
  • It links the muscle membrane to the thin muscular filaments within the cell. (wikipedia.org)
Disorder1
  • There is no cure for any disorder from the muscular dystrophy group. (wikipedia.org)
Group1
  • Dr. Guillaume Bassez is a neurologist and head of the Translational Myotonic Dystrophy Research Group at the Institut de Myologie in Paris. (myotonic.org)
Treatment2
Development1
  • First, they're one of the largest funders of ALS basic and translational science, which means almost every single development that you see in the space has in part been funded by the Muscular Dystrophy Association or taking place in the laboratories that were supported by the Muscular Dystrophy Association, or careers that were even launched by the organization. (mda.org)
Types1
  • Specific muscle groups are affected by different types of muscular dystrophy. (wikipedia.org)
Diseases1