CUGC for Duchenne muscular dystrophy (DMD)

Coote, David; Davis, Mark; Cabrera, Macarena; Needham, Merrilee; Laing, Nigel G.; Nowak, Kristen J.

doi:10.1038/s41431-017-0013-2

Cited by 2 publications

(15 citation statements)

References 65 publications

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“…These include: poor weight gain, cognitive delay, attention disorders, delayed speech development, and articulation problems. None of them are specific enough to raise a suspicion of muscular dystrophy (5,7) . Lack of medical expertise in the parents of the affected child, preventing them from noticing subtle manifestations of the disorder, such as delayed onset of walking, is another factor contributing to diagnostic delay (5) .…”

Section: Discussionmentioning

confidence: 99%

“…None of them are specific enough to raise a suspicion of muscular dystrophy (5,7) . Lack of medical expertise in the parents of the affected child, preventing them from noticing subtle manifestations of the disorder, such as delayed onset of walking, is another factor contributing to diagnostic delay (5) . CK activity is up to 100 times higher in patients with myopathy (5) .…”

Section: Discussionmentioning

confidence: 99%

“…Lack of medical expertise in the parents of the affected child, preventing them from noticing subtle manifestations of the disorder, such as delayed onset of walking, is another factor contributing to diagnostic delay (5) . CK activity is up to 100 times higher in patients with myopathy (5) . The enzyme is involved in the conversion of adenosine triphosphate (ATP) and creatinine into adenosine diphosphate (ADP) and phosphocreatinine, supplying the cell with energy.…”

Section: Discussionmentioning

confidence: 99%

“…Characteristic, yet non-specific laboratory parameters include significantly elevated liver enzymes -aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) (4) . The diagnosis of muscular dystrophy is verified by genetic testing, most commonly using the following techniques: multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridisation (aCGH) or next generation sequencing (NGS) (5) . Deletions of exons 45-53 account for 60% of known mutations (4) .…”

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confidence: 99%

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Duchenne muscular dystrophy diagnosed in infancy – a case report

Śliwińska¹,

Rakuś-Kwiatosz²,

Wojciechowska³

2022

Pediatr Med Rodz

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Duchenne muscular dystrophy is the most common inherited neuromuscular disorder. The onset of myopathic symptoms is observed at an average age of 2.5 years. However, the definitive diagnosis is not reached until between 3 and 5 years of age, indicating a delay in relation to the onset of first symptoms. The diagnosis is confirmed with genetic testing. This paper presents a case of a 6.5-month-old boy with reduced motor activity already in the foetal period, hypertransaminasaemia, constipation and reduced muscle tone. Extensive differential diagnosis of these abnormalities, including genetic testing, confirmed Duchenne muscular dystrophy. Detection of this disease at an early, poorly symptomatic stage offers a chance to achieve better treatment outcomes and improve the patient’s quality of life. Modern gene therapies implemented before irreversible changes are induced by the disease may in the future give the patient a chance to be completely cured. In the presented case, the symptoms of myopathy were present already in foetal life, and the diagnosis was reached at a younger age than the typical age reported in most of the available literature data.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Duchenne muscular dystrophy diagnosed in infancy – a case report

Śliwińska¹,

Rakuś-Kwiatosz²,

Wojciechowska³

2022

Pediatr Med Rodz

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“…Duchenne muscular dystrophy (DMD, OMIM# 310200), the most common X-linked recessive inherited muscle disease, affects approximately 1 in 3,600–6,000 live male births ( Walter and Reilich, 2017 ; Coote et al, 2018 ; Fox et al, 2020 ). DMD is usually not recognized by ultrasound examination or serum screening, and is often diagnosed after delivery.…”

Section: Introductionmentioning

confidence: 99%

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China

Kong

Li²,

Zhao

et al. 2021

Front. Genet.

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Noninvasive prenatal diagnosis (NIPD) of single-gene disorders has recently become the focus of clinical laboratories. However, reports on the clinical application of NIPD of Duchenne muscular dystrophy (DMD) are limited. This study aimed to evaluate the detection performance of haplotype-based NIPD of DMD in a real clinical environment. Twenty-one DMD families at 7–12 weeks of gestation were prospectively recruited. DNA libraries of cell-free DNA from the pregnant and genomic DNA from family members were captured using a custom assay for the enrichment of DMD gene exons and spanning single-nucleotide polymorphisms, followed by next-generation sequencing. Parental haplotype phasing was based on family linkage analysis, and fetal genotyping was inferred using the Bayes factor through target maternal plasma sequencing. Finally, the entire experimental process was promoted in the local clinical laboratory. We recruited 13 complete families, 6 families without paternal samples, and 2 families without probands in which daughter samples were collected. Two different maternal haplotypes were constructed based on family members in all 21 pedigrees at as early as 7 gestational weeks. Among the included families, the fetal genotypes of 20 families were identified at the first blood collection, and a second blood collection was performed for another family due to low fetal concentration. The NIPD result of each family was reported within 1 week. The fetal fraction in maternal cfDNA ranged from 1.87 to 11.68%. In addition, recombination events were assessed in two fetuses. All NIPD results were concordant with the findings of invasive prenatal diagnosis (chorionic villus sampling or amniocentesis). Exon capture and haplotype-based NIPD of DMD are regularly used for DMD genetic diagnosis, carrier screening, and noninvasive prenatal diagnosis in the clinic. Our method, haplotype-based early screening for DMD fetal genotyping via cfDNA sequencing, has high feasibility and accuracy, a short turnaround time, and is inexpensive in a real clinical environment.

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CUGC for Duchenne muscular dystrophy (DMD)

Cited by 2 publications

References 65 publications

Duchenne muscular dystrophy diagnosed in infancy – a case report

Duchenne muscular dystrophy diagnosed in infancy – a case report

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China

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