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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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139 hot topic(s) found with the query "Muscular dystrophy"

The FDA and Gene Therapy for Duchenne Muscular Dystrophy
(Posted: May 01, 2024 5PM)

From the article: " DMD is the largest human gene and has 79 exons. This large size creates issues for gene therapies, but also opportunities, because shortened forms of dystrophin can have some ability to preserve muscle function, although less than the full-length dystrophin protein. A less severe and clinically variable form of muscular dystrophy, Becker muscular dystrophy, is due to alterations in DMD that result in variable levels of expression (5%-50% of normal) of a shortened form of dystrophin."

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024 (Posted: Apr 15, 2024 2PM)

From the abstract: " Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience."

Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Charli Ji et al. Lancet Reg Health West Pac 2024 3 101049 (Posted: Apr 02, 2024 10AM)

From the abstract: "Participants included 50 caregivers and 26 HCPs (68.5% and 53.1% response rate respectively). Most caregivers (40/50, 80%) perceived net benefits of DMD NBS and highlighted an early diagnosis as actionable knowledge, even with the current paucity of disease modifying therapies. This knowledge was valued to enable access to multidisciplinary supportive care (29/50, 58%), clinical trials (27/50, 54%), psychological support (28/50, 56%), inform reproductive planning (27/50, 54%), and facilitate financial planning based on the future needs of their child (27/50, 54%). "

Diagnosis and Management of Myotonic Dystrophy Type 1
J Hartman et al, JAMA March 11, 2024 (Posted: Mar 11, 2024 2PM)

From the article: " Myotonic dystrophy type 1 is the most common form of muscular dystrophy. A recent genetic prevalence study of 50?382 consecutive births from the New York state newborn screening program estimated prevalence to be approximately 1:2100 individuals. This estimate is substantially higher than previously reported global estimates, which ranged from 5 to 20 per 100?000 individuals.2 Additional prevalence studies are needed with representative populations in other regions of the world. In an analysis of 679 patients in a US registry, individuals with myotonic dystrophy type 1 had a 7-year delay from symptom onset to diagnosis."

Spending on Targeted Therapies for Duchenne Muscular Dystrophy
L Bendicksen et al, JAMA, March 11, 2024 (Posted: Mar 11, 2024 11AM)

From the article: "Duchenne muscular dystrophy–targeted therapies with limited evidence of clinical efficacy have cost the US health care system more than $3 billion. Most of this spending was for eteplirsen, the efficacy of which has yet to be determined in a confirmatory trial more than 7 years after the drug’s accelerated approval. This analysis sheds light on controversies relating to drugs’ limited preapproval evidence of efficacy, high prices, and delayed confirmatory trials. "

Public Health Genetics, Gene Therapy, and Duchenne Muscular Dystrophy
CDC Webinar, December 18, 2023 Brand (Posted: Nov 27, 2023 10AM)

From the website: "This webinar will review the population health impact of rare diseases such as DMD. Presenters will cover the genetics and clinical impact of DMD, the evolution of gene therapy, the development of FDA-approved gene therapy to treat the underlying protein deficiency that causes DMD, and the health equity challenges. "

Two Years of Newborn Screening for Duchenne Muscular Dystrophy as a Part of the Statewide Early Check Research Program in North Carolina
KS Kucera et al, Genetics in Medicine, October 17, 2023 (Posted: Oct 19, 2023 2PM)

From the abstract: " We screened 13,354 newborns and identified two males with DMD. The provisional 1626 ng/mL cutoff was raised to 2032 ng/mL to improve specificity, and additional cutoffs (900 and 360 ng/mL) were implemented to improve sensitivity for older and low-birthweight newborns. Population-scale screening for elevated CK-MM in DBS is a feasible approach to identify newborns with DMD. Inclusion of birthweight- and age-specific cutoffs, repeat CK testing after 72 hours of age, and DMD sequencing improve sensitivity and specificity of screening."

Lessons learned from the first national population-based genetic carrier-screening program for Duchenne Muscular Dystrophy.
A Singer et al, Genetics in Medicine, September 12, 2023 (Posted: Sep 13, 2023 0PM)

From the abstract: " Of overall 85,737 DMD tests, 82 clinically significant findings were noted (0.095%, or 1:1046 women). In addition, 80 findings with uncertain clinical significance were detected (0.093%, or 1:1072), as well as 373 cases (0.4%, or 1:230) of single exon deletions subsequently identified as false-positives due to underlying single nucleotide variant, mostly variants in exon 8 in North African Jewish population, and in exon 48 in Arab Muslim population."

For Duchenne moms who pushed for cures, new breakthrough therapy can’t rebuild what’s lost
J Mast, Stat News, June 30, 2023 (Posted: Jun 30, 2023 10AM)

Muscular dystrophy gene therapy nears approval, but safety concerns linger Use of viruses poses significant risks and, for now, prevents retreatment if benefits fade
J Kaiser, Science, May 23, 2023 (Posted: May 27, 2023 7AM)

Because of a mutation in the gene for dystrophin, DMD patients lack functioning copies of the huge protein that serves as a shock absorber inside muscle fiber cells. Without it, muscle cells become damaged and gradually die. Patients usually end up using a wheelchair by age 12 and succumb to heart or respiratory problems by age 30. (Most are boys; the dystrophin gene is on the X chromosome, so girls have two copies and rarely develop DMD.) Existing therapies are only modestly effective.

What is Muscular Dystrophy?
CDC, 2023 (Posted: Mar 01, 2023 1PM)

Muscular dystrophies are a group of muscle diseases caused by mutations in a person’s genes. Over time, muscle weakness decreases mobility, making everyday tasks difficult. There are many kinds of muscular dystrophy, each affecting specific muscle groups, with signs and symptoms appearing at different ages, and varying in severity. Muscular dystrophy can run in families, or a person can be the first in their family to have a muscular dystrophy.

Wearables and AI better predict the progression of muscular dystrophy
Nature Medicine, January 20, 2023 (Posted: Jan 21, 2023 6AM)

Clinical trials in neurological diseases often involve subjective, qualitative endpoints, such ‘by eye’ observations of movement. We developed an artificial intelligence–based method to analyze natural daily behavior data from people with Duchenne muscular dystrophy, using machine-learning algorithms to accurately predict their personal disease trajectories better than conventional clinical assessments.

Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy.
Ricotti Valeria et al. Nature medicine 2023 1 (Posted: Jan 20, 2023 6AM)

Artificial intelligence has the potential to revolutionize healthcare, yet clinical trials in neurological diseases continue to rely on subjective, semiquantitative and motivation-dependent endpoints for drug development. To overcome this limitation, we collected a digital readout of whole-body movement behavior of patients with Duchenne muscular dystrophy (DMD) (n?=?21) and age-matched controls (n?=?17).

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
D Kariyawasam et al, EJHG, June 27, 2022 (Posted: Jun 27, 2022 10AM)

A retrospective population-based cohort study of all genetically and/or histopathologically confirmed males with DMD, born in New South Wales and the Australian Capital Territory was undertaken from 2002–2012. Cases were identified using state-wide molecular laboratory and clinical databases. The annual disease incidence and “theoretically” preventable cases were extrapolated over the study period. Proband genotype/phenotype, pedigree analysis, carrier-risk and extent of cascade screening were also determined. The cumulative incidence of disease was 19.7 per 100,000 male live births and 1 in 5076 live born males were diagnosed with DMD.

Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Paramsothy Pangaja et al. Neuromuscular disorders : NMD 2022 5 (Posted: Jun 11, 2022 9AM)

Among 526 individuals identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network, the estimated median survival time from birth was 23.7 years. Current glucocorticoid users had a lower hazard of mortality than non-users. Individuals who ever had scoliosis surgery had a lower hazard of mortality than individuals who did not have scoliosis surgery. Individuals who ever used cough assist had a lower hazard of mortality than individuals who never used cough assist. Non-Hispanic Black individuals had a higher hazard of mortality than non-Hispanic White individuals.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri Michela et al. JAMA 2022 4 (Posted: Apr 06, 2022 0PM)

What is the difference in clinical outcomes among 3 corticosteroid regimens (0.75 mg/kg of daily prednisone, 0.90 mg/kg of daily deflazacort, or 0.75 mg/kg of intermittent prednisone for 10 days on and then 10 days off) as initial treatment for boys with Duchenne muscular dystrophy? This randomized clinical trial included 196 boys with Duchenne muscular dystrophy; the clinical outcome was a global outcome that incorporated a measure of rising from the floor, forced vital capacity, and global satisfaction with treatment assessed over 3 years. Daily prednisone and daily deflazacort resulted in significantly better outcomes compared with intermittent prednisone; there was no significant difference between the 2 daily regimens.

Muscular Dystrophy
CDC, 2021 Brand (Posted: Sep 15, 2021 9AM)

Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Duchenne muscular dystrophy.
Duan Dongsheng et al. Nature reviews. Disease primers 2021 Feb 7(1) 13 (Posted: Feb 23, 2021 8AM)

Recent studies have greatly deepened our understanding of the primary and secondary pathogenetic mechanisms. Guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease have been established. In addition, a number of therapies that aim to restore the missing dystrophin protein or address secondary pathology have received regulatory approval and others are in clinical development.

Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy
V Himic et al, EJHG, February 9, 2021 (Posted: Feb 10, 2021 9AM)

As variants in the dystrophin gene lead to a disruption of the reading frame, pharmacological treatments have only limited efficacy; there is currently no effective therapy and consequently, a significant unmet clinical need for DMD. Recently, novel genetic approaches have shown real promise in treating DMD, with advancements in the efficacy and tropism of exon skipping and surrogate gene therapy. CRISPR-Cas9 has the potential to be a ‘one-hit’ curative treatment.

Duchenne and Becker Muscular Dystrophies' Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences.
Zhang Yanan et al. Neuroepidemiology 2021 Jan 1-9 (Posted: Jan 28, 2021 8AM)

Assessment of rAAVrh.74.MHCK7.micro-dystrophin Gene Therapy Using Magnetic Resonance Imaging in Children With Duchenne Muscular Dystrophy
RJ Wilcocks et al, JAMA Network Open, January 4, 2021 (Posted: Jan 06, 2021 8AM)

Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era
O Sheikh et al, JPM, September 3, 2020 (Posted: Sep 03, 2020 8AM)

To maximize the benefit of exon-skipping therapies, accurate genetic diagnosis and characterization including genotype–phenotype correlation studies are becoming increasingly important. In this article, we present the recent progress in the collection of mutational data and optimization of exon-skipping therapy for DMD/BMD.

A Boy With Muscular Dystrophy Was Headed For A Wheelchair. Then Gene Therapy Arrived
J Hamilton, NPR, July 27, 2020 (Posted: Jul 27, 2020 8AM)

Nine boys with Duchenne have received gene therapy. Preliminary results on six of them, tested a year after treatment, showed they had improved strength and endurance at an age when boys with Duchenne usually become weaker. The success suggests that gene therapy could be poised to change the lives of thousands of children — usually boys —who have Duchenne.

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy- A Nonrandomized Controlled Trial
JR Mendell et al, JAMA Neurology, June 15, 2020 (Posted: Jun 15, 2020 1PM)

In this nonrandomized controlled trial of 4 young patients with Duchenne muscular dystrophy, rAAVrh74.MHCK7.micro-dystrophin gene transfer was well tolerated, with minimal adverse events, and was associated with robust micro-dystrophin expression, reduced serum creatine kinase levels, and functional improvement.

Facioscapulohumeral Muscular Dystrophy—a Tale of Heterogeneity and the Power of Clinical Assessments
K Nguyen, JAMA Network Open, May 1, 2020 (Posted: May 04, 2020 7AM)

The care of patients with Duchenne, Becker and other muscular dystrophies in the COVID-19 pandemic.
Veerapandiyan Aravindhan et al. Muscle & nerve 2020 Apr (Posted: Apr 29, 2020 7AM)

The paper discusses consensus recommendations pertaining to care of these patients during the pandemic. We address issues surrounding corticosteroid and exon skipping treatments, cardiac medications, hydroxychloroquine use, emergency/respiratory care, rehabilitation management, and the conduct of clinical trials

Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics, 2020 (Posted: Mar 10, 2020 0PM)

The webinars in this 5-part education series focus on primary and specialty care for patients with Duchenne muscular dystrophy (DMD). Through this education series, pediatricians will be better informed about emerging therapies related to the care and management of patients with DMD. Further, they will be able to identify common issues affecting children with DMD. Finally, emphasis is placed on the valuable role of both primary care medical home and sub-specialty providers in coordinating effective treatment for patients with DMD.

Duchenne muscular dystrophy
H Fox et al, BMJ, January 2020 (Posted: Feb 03, 2020 8AM)

Consider Duchenne muscular dystrophy in boys with delayed motor milestones, positive Gowers’ sign, abnormal gait, muscle pains, calf hypertrophy, unexplained elevated liver enzymes, learning difficulties, behavioral problems, or speech and language delay. Early genetic diagnosis is important, as it can enable entry into appropriate clinical trials.

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
Signorelli Mirko et al. Journal of cachexia, sarcopenia and muscle 2019 Dec (Posted: Jan 02, 2020 9AM)

We identified a number of serum biomarkers associated with disease progression, loss of ambulation, and treatment with corticosteroids. Serum levels of MDH2 are of particular interest, as they correlate with disease stage and response to treatment with corticosteroids, and are also associated with the risk of wheelchair dependency and pulmonary function.

Muscular dystrophies
E Mercuri et al, The Lancet, November 2019 (Posted: Nov 30, 2019 10AM)

Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes. this Seminar, we concentrate on clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments for this group of conditions.

Grants for Rare Disease Research
F Sankar, JAMA< November 19, 2019 (Posted: Nov 21, 2019 7AM)

The FDA recently awarded $15 million over the next 4 years to support clinical research aimed at developing new drugs, devices, and medical foods for patients with rare diseases. The grants will support trials that enroll children with a variety of rare diseases, including Duchenne muscular dystrophy (DMD), sickle cell disease, and Fanconi anemia.

Gene-Editing Advance Puts More Gene-Based Cures Within Reach
F Collins, NIH Director Blog, November 5, 2019 Brand (Posted: Nov 06, 2019 8AM)

There’s been tremendous excitement about the potential of CRISPR and related gene-editing technologies for treating or even curing sickle cell disease (SCD), muscular dystrophy, HIV, and a wide range of other devastating conditions. Now comes word of another remarkable advance—called “prime editing”—that may bring us even closer to reaching that goal.

Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.
Eekhoff Lauren et al. Journal of genetic counseling 2019 Aug (Posted: Aug 07, 2019 8AM)

Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype Phasing
M Chen et al, BioxRIV preprints, July 31, 2019 (Posted: Aug 02, 2019 8AM)

Is Molecular Diagnosis Necessary for Children with Duchenne Muscular Dystrophy?
Puri Ratna Dua et al. Indian pediatrics 2019 Jul 56(7) 549-550 (Posted: Jul 31, 2019 9AM)

Update in Duchenne and Becker muscular dystrophy.
Waldrop Megan A et al. Current opinion in neurology 2019 Jul (Posted: Jul 31, 2019 9AM)

The purpose of this review is to highlight updates in the standard of care recommendations for DMD, and to describe approaches to and recent advances in genetic therapies for DMD. Early and accurate molecular diagnosis, along with appropriate and multidisciplinary care, provides the best opportunity for maximum benefit.

Living with Muscular Dystrophy
CDC, 2019 (Posted: Jul 08, 2019 10AM)

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
Baker Mei et al. JAMA neurology 2019 May (Posted: May 22, 2019 8AM)

Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.
Zhang Yan et al. Molecular genetics & genomic medicine 2019 Apr e622 (Posted: Apr 03, 2019 9AM)

For Many Boys With Duchenne Muscular Dystrophy, Bright Hope Lies Just Beyond Reach
G Kolata, New York Times, March 25, 2019 (Posted: Mar 26, 2019 8AM)

More Progress Toward Gene Editing for Kids with Muscular Dystrophy
NIH Director's Blog, February 2019 Brand (Posted: Mar 04, 2019 9AM)

Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing.
Zhang Kuo et al. Clinica chimica acta; international journal of clinical chemistry 2019 Jan (Posted: Jan 23, 2019 1PM)

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
Aartsma-Rus Annemieke et al. The Journal of pediatrics 2019 Jan 204305-313.e14 (Posted: Jan 02, 2019 10AM)

Gene editing for Duchenne muscular dystrophy
H Stower, Nature Medicine, October 2018 (Posted: Oct 09, 2018 9AM)

Duchenne Muscular Dystrophy Care Considerations
CDC, September 2018 Brand (Posted: Oct 01, 2018 0PM)

Implementation of Duchenne Muscular Dystrophy Care Considerations.
Andrews Jennifer G et al. Pediatrics 2018 Jun (Posted: Jun 27, 2018 9AM)

With tantalizing early results, Sarepta’s gene therapy for Duchenne raises hopes for ‘real change’
A Feuerstein, StatNews, June 19, 2018 (Posted: Jun 19, 2018 10AM)

At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy-Are We Closer to Effective Treatment for Patients?
Gawlik Kinga I et al. International journal of molecular sciences 2018 May 19(5) (Posted: May 23, 2018 9AM)

Unique Burdens of Pediatric Clinical Trials in Duchenne Muscular Dystrophy, April 20-21, 2017, Bethesda, Maryland, USA.
Franson Timothy et al. Therapeutic innovation & regulatory science 2018 Jan 2168479018764650 (Posted: May 02, 2018 9AM)

Duchenne and Becker muscular dystrophy in adolescents: current perspectives.
Andrews Jennifer G et al. Adolescent health, medicine and therapeutics 2018 953-63 (Posted: Apr 04, 2018 11AM)

Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia.
Atehortúa Sara C et al. Value in health regional issues 2018 Mar 171-6 (Posted: Mar 14, 2018 10AM)

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.
Birnkrant David J et al. The Lancet. Neurology 2018 Jan (Posted: Feb 13, 2018 1PM)

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.
Birnkrant David J et al. The Lancet. Neurology 2018 Jan (Posted: Feb 13, 2018 1PM)

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan.
Birnkrant David J et al. The Lancet. Neurology 2018 Feb (Posted: Feb 13, 2018 1PM)

Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy.
Estilow Timothy et al. The American journal of occupational therapy : official publication of the American Occupational Therapy Association (2) 7202345010p1-7202345010p5 (Posted: Feb 13, 2018 1PM)

Duchenne Muscular Dystrophy Care Considerations
CDC Information, Feb 2018 Brand (Posted: Feb 13, 2018 1PM)

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris Elizabeth et al. Orphanet journal of rare diseases 2017 Sep 12(1) 151 (Posted: Sep 13, 2017 9AM)

Progress toward Gene Therapy for Duchenne Muscular Dystrophy.
Chamberlain Joel R et al. Molecular therapy : the journal of the American Society of Gene Therapy 2017 May (5) 1125-1131 (Posted: Sep 07, 2017 5PM)

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.
Aartsma-Rus Annemieke et al. Nucleic acid therapeutics 2017 Aug (Posted: Sep 07, 2017 5PM)

Connor's story-
CDC Muscular Dystrophy page Brand (Posted: Sep 07, 2017 5PM)

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.
Araujo Alexandra P Q C et al. Arquivos de neuro-psiquiatria 2017 Aug 75(8) 104-113 (Posted: Aug 23, 2017 9AM)

Doctors Plan Bold Test of Gene Therapy on Boys with Muscular Dystrophy
A Regalado, MIT Tech Review, August 17, 2017 (Posted: Aug 17, 2017 10AM)

Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors.
Hufton Margaret et al. Developmental medicine and child neurology 2017 May (Posted: May 17, 2017 9AM)

Researchers find genetic cause of new type of muscular dystrophy
Medical Xpress, February 9, 2017 (Posted: Feb 10, 2017 2PM)

FDA approves drug to treat Duchenne muscular dystrophy
Reuters Health, February 9, 2017 (Posted: Feb 10, 2017 11AM)

DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87 (Posted: Feb 08, 2017 9AM)

Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants and perspectives of patients and healthcare professionals.
Baars J E et al. Journal of community genetics 2017 Jan (Posted: Jan 18, 2017 9AM)

Using Administrative Data to Ascertain True Cases of Muscular Dystrophy: Rare Disease Surveillance.
Smith Michael G et al. JMIR public health and surveillance 2017 Jan 3(1) e2 (Posted: Jan 18, 2017 9AM)

Muscling out gene mutations
KA WHitehead, Sci Trans Medicine, November 30, 2016 (Posted: Nov 30, 2016 7PM)

Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.
Bogue Lauren et al. Neuromuscular disorders : NMD 2016 Sep (Posted: Nov 21, 2016 1PM)

Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis.
Landfeldt Erik et al. PharmacoEconomics 2016 Oct (Posted: Nov 21, 2016 1PM)

Approving a Problematic Muscular Dystrophy Drug- Implications for FDA Policy
AS Kesselheim et al, JAMA October 25, 2016 (Posted: Oct 26, 2016 10AM)

FDA commissioner calls for Sarepta drug study to be retracted
StatNews, September 22, 2016 (Posted: Sep 22, 2016 10AM)

For two brothers with Duchenne, an FDA drug approval brings joy and relief
J Delviscio, StatNews, September 20, 2016 (Posted: Sep 21, 2016 6AM)

Sarepta to charge $300K for Duchenne drug. ‘We tried to be reasonable,’ CEO says
E Silverman, StatNews, September 19, 2016 (Posted: Sep 20, 2016 7AM)

Current and emerging treatment strategies for Duchenne muscular dystrophy.
Mah Jean K et al. Neuropsychiatric disease and treatment 2016 1795-807 (Posted: Sep 19, 2016 7PM)

Advances in gene therapy for muscular dystrophies.
Abdul-Razak Hayder et al. F1000Research 2016 (Posted: Sep 19, 2016 7PM)

FDA approves Sarepta’s controversial drug for Duchenne muscular dystrophy
E Silverman, Stat News, September 19, 2016 (Posted: Sep 19, 2016 7PM)

The emerging role of viral vectors as vehicles for DMD gene editing
I Maggio et al, May 23, 2016 (Posted: May 24, 2016 0PM)

Clinical Follow-Up For Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
Kwon Jennifer M et al. Muscle & nerve 2016 May (Posted: May 18, 2016 10AM)

Green light for Duchenne muscular dystrophy drug
BBC News, April 15, 2016 (Posted: Apr 18, 2016 3PM)

A systematic review of risk factors associated with muscular dystrophies.
Barakat-Haddad Caroline et al. Neurotoxicology 2016 Mar (Posted: Apr 16, 2016 6PM)

Clinical utility of serum biomarkers in Duchenne muscular dystrophy.
Hathout Yetrib et al. Clinical proteomics 2016 9 (Posted: Apr 16, 2016 6PM)

Evolving paradigms in clinical pharmacology and therapeutics for the treatment of duchenne muscular dystrophy.
Huard Johnny et al. Clinical pharmacology and therapeutics 2016 Apr (Posted: Apr 16, 2016 6PM)

Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.
Ciafaloni Emma et al. Journal of pediatric rehabilitation medicine 2016 Feb 9(1) 5-11 (Posted: Mar 16, 2016 10AM)

CRISPR helps heal mice with muscular dystrophy
J Kaiser, Science, December 31, 2015 (Posted: Jan 04, 2016 10AM)

P2RX7 Purinoceptor: A Therapeutic Target for Ameliorating the Symptoms of Duchenne Muscular Dystrophy
A Sinadinos et al. PLOS Medicine, October 2015 (Posted: Oct 14, 2015 7PM)

Potential treatment for muscular dystrophy
Harvard University, August 3, 2015 (Posted: Aug 04, 2015 9AM)

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Tawil Rabi et al. Neurology 2015 Jul 28. 85(4) 357-64 (Posted: Jul 29, 2015 11AM)

Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort.
Esterhuizen A I et al. S. Afr. Med. J. 2014 Nov 104(11) 779-84 (Posted: Jul 01, 2015 2PM)

Genetic and Clinical Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Eastern India.
Dey Sadanand et al. Indian Pediatr 2015 Jun 8. 52(6) 481-4 (Posted: Jul 01, 2015 2PM)

Efficacy of idebenone in Duchenne muscular dystrophy.
Mercuri Eugenio et al. Lancet 2015 May 2. (9979) 1704-6 (Posted: May 23, 2015 9AM)

Cell therapy in duchenne muscular dystrophy treatment: clinical trials overview.
Bajek Anna et al. Crit. Rev. Eukaryot. Gene Expr. 2015 (1) 1-11 (Posted: May 23, 2015 9AM)

Nutrition Considerations in Duchenne Muscular Dystrophy.
Davis Jillian et al. Nutr Clin Pract 2015 May 14. (Posted: May 23, 2015 9AM)

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
Dai Yi et al. Neuromuscul. Disord. 2015 Mar 17. (Posted: May 23, 2015 9AM)

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Kang Peter B et al. Neurology 2015 Mar 31. (13) 1369-78 (Posted: Apr 10, 2015 2PM)

CDC Key Findings: Population-Based Prevalence of Duchenne and Becker Muscular Dystrophies in the United States
First Population-Based Prevalence on Duchenne and Becker Muscular Dystrophy in the United States by Race and Ethnicity Brand (Posted: Feb 25, 2015 0PM)

CDC Muscular Dystrophy Research
CDC's Muscular Dystrophy Surveillance Tracking and Research Network is the only population-based muscular dystrophy tracking program in the United States Brand (Posted: Feb 25, 2015 0PM)

CDC Scientific Articles on Muscular Dystrophy
Brand (Posted: Feb 25, 2015 0PM)

Duchenne muscular dystrophy gene therapy in the canine model.
Duan Dongsheng et al. Hum Gene Ther Clin Dev 2015 Jan 14. (Posted: Feb 17, 2015 7PM)

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Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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