+ Translate
+ Most Popular
Gaucher's disease;thirty-two years experience at Siriraj Hospital
A study of Macrobathra Meyrick from China (Lepidoptera, Cosmopterigidae)
First occurrence in ores of tetragonal chalcocite
Effects of trace element nutrition on sleep patterns in adult women
N.Z. range management guidelines. 2. Design of grazing management systems for tussock country
A case of lipoma of the esophagus
A revision of world Acanthosomatidae (Heteroptera: Pentatomidae): keys to and descriptions of subfamilies, tribes and genera, with designation of types
Life history of the coronate scyphozoan Linuche unguiculata (Swartz, 1788)
Perceptual restoration of obliterated sounds
Mutagenicity studies on two chromium(III) coordination compounds
The formation of the skeleton. I. Growth of a long bone. 1st appearance of a center of calcification
Leucopenia and abnormal liver function in travellers on malaria chemoprophylaxis
The joint commission: four key root causes loom large in sentinel event data
Treatment of vitiligo with topical 15% lactic acid solution in combination with ultra violet-A
Behaviour of dairy cows within three hours after feed supply: I. Influence of housing type and time elapsing after feed supply
Observations of the propagation velocity and formation mechanism of burst fractures caused by gunshot
Management and control of patients with type 2 diabetes mellitus in Lebanon: results from the International Diabetes Management Practices Study (IDMPS)
The diet composition and nutritional knowledge of patients with anorexia nervosa
Physoporella croatica Herak, 1958 of the Slovak karst Anisian (Slovakia, the West Carpathians Mts.)
Bright lights, big noise. How effective are vehicle warning systems?
Ein Plesiosaurier-Rest mit Magensteinen aus mittlerem Lias von Quedlinburg
Incidence of Chlamydia trachomatis in patients with sterility
Monster soup: the microscope and Victorian fantasy
Preliminary tests with residual sprays against poultry lice
Duration of the life of plants in phylogeny

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review

JAMA Neurology 73(1): 111-116

ISSN/ISBN: 2168-6157

PMID: 26594870

DOI: 10.1001/jamaneurol.2015.3537

Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require early diagnosis for effectiveness. Elevated creatine kinase levels in the neonatal period are the initial screening marker in DMD newborn screening programs but is found in inherited muscle disorders other than DMD. Data are needed to inform protocols for future screening and follow-up testing and care in these patients. To review non-DMD muscle disorders identified by prior DMD screening programs and to investigate whether these programs failed to identify patients later diagnosed as having DMD (false-negative findings). Since 1975, 10 DMD newborn screening programs have provided opportunities to study screening protocols, outcomes, and parental responses. These programs used elevated creatine kinase levels in dried blood spots for the initial screening, with the diagnosis of DMD based on findings of clinical follow-up, muscle biopsy, or direct mutational testing of the DMD gene. Literature regarding these prior programs was reviewed in PubMed, and the programs were discussed directly with the directors when possible to identify diagnoses of non-DMD disorders and false negative results from 1975 to July 12, 2015. Data were collected from screening programs, which were active between 1975 and December 2011. Data were analyzed from March 26, 2015, to August 24, 2015. The 10 screening programs screened more than 1.8 million newborns between 1975 and 2011, and 344 were diagnosed with DMD. Of those screened, the majority were boys. Across all programs, 80 patients had positive results for non-DMD disorders, including Becker muscular dystrophy and forms of limb-girdle and congenital muscular dystrophies, and 21 patients had false-negative findings for DMD. Screening for DMD will result in identification of other muscle diseases. Future screening protocols should include infants of both sexes and include follow-up testing algorithms to evaluate patients who do not have DMD gene mutations but may have another muscle disorder associated with elevated neonatal creatine kinase levels. These programs will need to be aware that false-negative results are a possibility.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 058042411

Download citation: RISBibTeXText

Related references

False-negative cases in neonatal screening for Duchenne muscular dystrophy. Farriaux, J -P, Dhondt, J -L International Congress Series; New horizons in neonatal screening 273-276, 1994

Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial: Running title: Edasalonexent for Duchenne muscular dystrophy. Neuromuscular Disorders: Nmd 2021, 2021

Dépistage néonatal systématique de la myopathie de Duchenne - Newborn screening for Duchenne muscular dystrophy. Journal de Medecine de Lyon (Lyon 1864) 64(1382): 349-351, 1983

Immunohistochemical staining of dystrophin on formalin-fixed paraffin-embedded sections in Duchenne/Becker muscular dystrophy and manifesting carriers of Duchenne muscular dystrophy. Neuromuscular Disorders: Nmd 10(6): 425-429, 2000

Allosteric transition of erythrocyte alkaline phosphatase from Duchenne muscular dystrophy (DMD) patients and Duchenne muscular dystrophy carriers (Homo sapiens). International Journal of Biochemistry 20(7): 703-706, 1988

Clinical genetic study on female duchenne muscular dystrophy or duchenne like muscular dystrophy proposal of the hypothesis of sex controlled inheritance. Medical Journal of Kagoshima University 38(4): 507-524, 1987

Further evidence for xp21 location of duchenne muscular dystrophy locus x 9 translocation in a female with duchenne muscular dystrophy. Journal Of Medical Genetics: 461-463, 1983

Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. World Journal of Pediatrics: Wjp 15(3): 219-225, 2019

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle and Nerve 49(6): 822-828, 2014

Further evidence for xp 21 location of duchenne muscular dystrophy locus x 9 translocation in a female with duchenne muscular dystrophy. American Journal of Human Genetics 33(6): 103A, 1981

Randomised trial of preventive nasal ventilation in Duchenne muscular dystrophy. French Multicentre Cooperative Group on Home Mechanical Ventilation Assistance in Duchenne de Boulogne Muscular Dystrophy. Lancet 343(8913): 1600-1604, 1994

Abnormalities of creatine metabolism in duchenne muscular dystrophy proposal for creatine urea pathway in human skeletal muscle and demonstration of abnormal creatinase in duchenne muscular dystrophy. Shinkei Kenkyu No Shinpo 24(4): 831-837, 1980

A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians. Clinical Trials 2020: 1740774520958395, 2020

Reliability and validity of the Thai version of the Pediatric Quality of Life inventory™ 3.0 Duchenne Muscular Dystrophy module in Thai children with Duchenne Muscular Dystrophy. Health and Quality of Life Outcomes 17(1): 76, 2019

Usefulness of test: manual muscle testing, goniometry, and daily activities for differential diagnosis of Duchenne muscular dystrophy, Becker's mild muscular dystrophy and Becker's severe muscular dystrophy. International Journal of Rehabilitation Research. Internationale Zeitschrift für Rehabilitationsforschung. Revue Internationale de Recherches de Readaptation 21(1): 79-85, 1998