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About 12,680 results

ALLMedicine™ Muscular Dystrophy Center

Research & Reviews  4,364 results

Decoding the genetics of rare disease: an interview with Monkol Lek.
https://doi.org/10.1242/dmm.049694
Disease Models & Mechanisms; Lek M

Jun 29th, 2022 - Monkol Lek, Assistant Professor at Yale University School of Medicine, and Associate Editor at Disease Models & Mechanisms, dedicates his research to finding a genetic diagnosis and improving treatments for rare disease patients. As he originally ...

Fibre optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular...
https://doi.org/10.1002/mus.27671
Muscle & Nerve; Alix JJP, Plesia M et. al.

Jun 29th, 2022 - Raman spectroscopy is an emerging technique for the evaluation of muscle disease. Here, we evaluate the ability of in vivo intramuscular Raman spectroscopy to detect the effects of voluntary running in the mdx model of Duchenne muscular dystrophy ...

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.
https://doi.org/10.1038/s41431-022-01138-2 10.1016/0960-8966(91)90039-u 10.3978/j.issn.2305-5839.2015.10.45 10.1111/jpc.12868 10.3233/JND-170280 10.1007/s10654-020-00613-8 10.1002/humu.22758 10.1007/BF02717892 10.1016/S0960-8966(02)00213-4 10.1136/jmg.27.11.683 10.1136/jmg.26.9.553 10.1016/0092-8674(87)90579-4 10.1016/s0074-7696(04)40001-1 10.1038/jhg.2016.7 10.1002/pd.1970040406 10.1111/j.0004-8666.2002.00085.x 10.1136/jmg.2006.047464 10.1377/hlthaff.2017.1630 10.1111/j.1399-0004.2012.01876.x 10.1186/s13023-017-0631-3 10.1111/j.1399-0004.2010.01579.x 10.1177/0009922809347777 10.1136/jmg.17.4.245 10.1016/j.nmd.2006.05.244 10.1038/ejhg.2012.301 10.1186/s13023-020-01430-8 10.1016/S1474-4422(18)30025-5 10.1111/j.1651-2227.1989.tb10894.x 10.1038/s41431-020-0685-x 10.1007/BF00275183 10.1016/j.nmd.2014.03.008 10.1016/S0960-8966(03)00162-7 10.1097/GIM.0b013e31818fa2ff 10.1007/bf00210802 10.1007/s12519-019-00242-6 10.1038/ejhg.2012.101 10.1016/j.healthpol.2007.02.007 10.1002/pd.5611 10.1002/pd.5352 10.1097/aog.0000000000004229 10.1038/ejhg.2015.271 10.1093/humrep/deab087
European Journal of Human Genetics : EJHG; Kariyawasam D, D'Silva A et. al.

Jun 27th, 2022 - Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally inherited in two-thirds of affected boys. It is important to establish carrier status of female relatives to restore reproductive confidence for non-carriers and faci...

Large scale population screening for Duchenne muscular dystrophy - Predictable and unpr...
https://doi.org/10.1002/pd.6201
Prenatal Diagnosis; Cohen G, Asor AS et. al.

Jun 26th, 2022 - Large deletions and duplications account for 65-80% of pathogenic DMD variants. A nationwide carrier screening for Duchenne muscular dystrophy (DMD) was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants detected in...

Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Sco...
https://doi.org/10.1212/WNL.0000000000200757
Neurology Mellion ML, Widholm P et. al.

Jun 25th, 2022 - Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease characterized by progressive muscle weakness. MRI is a sensitive assessment of disease severity and progression. We developed a quantitative whole-body (WB) musculoskele...

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Guidelines  7 results

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in ...
https://doi.org/10.1016/j.hrthm.2022.04.022
Heart Rhythm; Groh WJ, Bhakta D et. al.

May 3rd, 2022 - This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The doc...

Standardized Data Structures in Rare Diseases: CDISC User Guides for Duchenne Muscular ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877853
Clinical and Translational Science; Mullin AP, Corey D et. al.

Jul 24th, 2020 - Interest in drug development for rare diseases has expanded dramatically since the Orphan Drug Act was passed in 1983, with 40% of new drug approvals in 2019 targeting orphan indications. However, limited quantitative understanding of natural hist...

Respiratory Management of the Patient With Duchenne Muscular Dystrophy.
https://doi.org/10.1542/peds.2018-0333H
Pediatrics Sheehan DW, Birnkrant DJ et. al.

Oct 3rd, 2018 - In 2010, Care Considerations for Duchenne Muscular Dystrophy, sponsored by the Centers for Disease Control and Prevention, was published in Lancet Neurology, and in 2018, these guidelines were updated. Since the publication of the first set of gui...

Consensus guidelines on the use of bisphosphonate therapy in children and adolescents.
https://doi.org/10.1111/jpc.13768
Journal of Paediatrics and Child Health; Simm PJ, Biggin A et. al.

Mar 6th, 2018 - Bisphosphonate therapy is the mainstay of pharmacological intervention in young people with skeletal fragility. The evidence of its use in a variety of conditions remains limited despite over three decades of clinical experience. On behalf of the ...

Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the Nation...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573596
Circulation McNally EM, Kaltman JR et. al.

May 6th, 2015 - Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.|2015|McNally EM,Kaltman JR,Benson DW,Canter CE,Cripe LH,|therapeuti...

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Drugs  8 results see all →

Clinicaltrials.gov  444 results

A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases
https://clinicaltrials.gov/ct2/show/NCT02639260

Jun 24th, 2022 - Background. ManNAc (N-acetyl D-mannosamine) is an uncharged monosaccharide that is the biologic precursor of N-acetyl neuraminic acid (Neu5Ac, sialic acid). Sialic acids are the negatively charged, terminal monosaccharides of carbohydrate chains t...

Evaluating a New Knee-Ankle-Foot Brace to Improve Gait in Children With Movement Disorders
https://clinicaltrials.gov/ct2/show/NCT01961557

Jun 24th, 2022 - Objective The purpose of this protocol is to evaluate several configurations of a prototype Extension Assist Knee-Ankle-Foot Orthosis (EA-KAFO) in patients with cerebral palsy (CP), muscular dystrophy (MD), spina bifida (SB), or incomplete spinal ...

Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
https://clinicaltrials.gov/ct2/show/NCT01851447

Jun 24th, 2022 - Objectives: the aim of this protocol is to identify biomarker and clinical correlates of changes in the barrier function of skeletal muscle membrane (i.e. cell membrane permeability) before and after routine motor function testing in patients with...

A Study to Evaluate the Safety and Tolerability of PF-06939926 Gene Therapy in Duchenne Muscular Dystrophy
https://clinicaltrials.gov/ct2/show/NCT03362502

Jun 24th, 2022 - This is a first-in-human/first-in-patient, multi-center, open-label, non-randomized, ascending dose, safety and tolerability study of a single intravenous infusion of PF-06939926 in ambulatory and non-ambulatory subjects with Duchenne muscular dys...

Effect of Foot Structure and Foot and Body Posture on Gait and Balance in Duchenne Muscular Dystrophy
https://clinicaltrials.gov/ct2/show/NCT04353167

Jun 24th, 2022 - Foot and body postures of patients with DMD will be evaluated. Foot structure characteristics such as foot length, metatarsal width, calcaneal valgus angle will be calculated for the foot posture. Also, the Foot Posture Index (FPI-6) scale will be...

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News  226 results

Five New Neurology Studies: Possible Breakthroughs, Some Failures
https://www.medscape.com/viewarticle/972485

May 9th, 2022 - This transcript has been edited for clarity. Dear colleagues, I'm Christoph Diener from the University of Duisburg-Essen in Germany. Today, I would like to report on five exciting studies from March 2022. Cell Therapy for Duchenne Muscular Dystrop...

Tau Moderated by Menopause; CTE Risk Underestimated; When Is a Single Study Enough?
https://www.medpagetoday.com/neurology/generalneurology/98523

May 3rd, 2022 - Menopause status moderated sex differences in tau burden, with a divergence in tauopathy between the sexes apparent 20 years earlier than previously reported. (Annals of Neurology) Plasma p-tau was a less consistent marker of brain amyloidosis in ...

First Human Bird Flu Case in U.S.; Okla. Nears Abortion Ban; Ebola Outbreak in DRC
https://www.medpagetoday.com/infectiousdisease/covid19/98463

Apr 29th, 2022 - Note that some links may require registration or subscription. CDC confirmed the first human case of the H5N1 bird flu in the U.S., in a Colorado man with direct exposure to birds. Oklahoma Gov. Kevin Stitt (R) is expected to sign a "Texas-style" ...

Optimal Treatment Regimen for Muscular Dystrophy Identified?
https://www.medscape.com/viewarticle/971703

Apr 6th, 2022 - Daily corticosteroid use is significantly more effective than an intermittent regimen for improving motor function in patients with Duchenne muscular dystrophy (DMD), a new study suggests. Dr Michela Guglieri "The intermittent regimen has been use...

A Useful Severity Predictor in Muscular Dystrophy?
https://www.medscape.com/viewarticle/969943

Mar 9th, 2022 - The study covered in this summary was published on Researchsquare.com as a preprint and has not yet been peer reviewed. Key Takeaways Peripheral eosinophil count was negatively correlated with the Vignos muscle strength score in pediatric patients...

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Patient Education  23 results see all →