Integrated diagnostic approach of pediatric neuromuscular disorders

Lee, Ha Neul; Lee, Young Mock

doi:10.5734/jgm.2018.15.2.55

Cited by 4 publications

(3 citation statements)

References 34 publications

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“…Over the past decade, clinical evaluation for NMDs has increasingly incorporated molecular genetics as a first or second tier diagnostic practice (Lee & Lee, 2018; McDonald, 2012). Options for single gene, multigene, and whole exome sequencing (WES) are now utilized by genetic specialists and neurologists.…”

Section: Introductionmentioning

confidence: 99%

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders

Rosenberg,

Tian,

et al. 2023

American J of Med Genetics Pt A

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Inherited neuromuscular disorders (NMDs) are a large group of genetic conditions characterized by impaired peripheral nerve, motor neuron, neuromuscular junction, or skeletal muscle function. These conditions are also known to have clinical and genetic heterogeneity and variable ages of onset. Clinical evaluation for NMDs has increasingly incorporated molecular genetics. However, genetic testing is complicated by the variety of testing options and the ambiguity of NMD phenotypes. Examining test selection and yield may elucidate testing recommendations and improve the diagnostic journey for these patients. This retrospective chart review evaluated the clinical presentations, genetic testing approaches, and diagnostic outcomes of 155 patients with suspected NMDs at Cincinnati Children's Hospital Medical Center. A total of 262 individual tests were ordered, averaging 1.7 tests per patient. The clinic utilized 26 separate genetic tests, with test yields ranging from 0% to 66%. Overall, 21% of patients received a genetic diagnosis. Of all the clinical findings evaluated, elevated CPK levels with or without muscle weakness were the most informative symptoms correlated with a diagnostic result. This study highlights several genetic testing considerations for NMDs, including the variability of diagnostic outcomes. This knowledge is relevant to clinicians and patients, especially during the pretest counseling and consenting process.

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Section: Introductionmentioning

confidence: 99%

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders

Rosenberg,

Tian,

et al. 2023

American J of Med Genetics Pt A

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“…[2,3] Accurate diagnosis is challenging and requires a multidisciplinary approach with interplay of signs, symptoms, laboratory tests, electrophysiological studies such as EMG, elaborate histopathology, immunohistochemistry and imaging studies. [4] Careful consideration of this information should be given prior to genetic testing, especially due to cost and difficulty in interpretation of the study result. So far, it is reported that the diagnostic yield of genetic tests varies from 18-60% depending on the disease subtype as per literature.…”

Section: Introductionmentioning

confidence: 99%

“…So far, it is reported that the diagnostic yield of genetic tests varies from 18-60% depending on the disease subtype as per literature. [4,5] Many variants of unknown significance are found, making the road to accurate diagnosis even more complicated.…”

Section: Introductionmentioning

confidence: 99%

Neuromuscular Disorders: A Histomorphological and Clinicopathological Evaluation in a Tertiary Care Centre

Kaur,

Harsh,

Takhar

et al. 2023

JMSH

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Background: Neuromuscular disorders are rare, inherited progressive disorders leading to major disabilities over the years. As a group, there prevalence is not so uncommon and requires attention in view of their rising cases. Muscle biopsy forms an integral part of the diagnostic workup for patients with neuromuscular disorder but is performed in a very few institutes in Asia. In this study, we learn the spectrum of neuromuscular disorders presenting in a tertiary care centre of a developing country, India and evaluate the importance of open muscle biopsy. Material and Methods: 112 Muscle biopsies were reviewed and analysed for investigation of patients with suspected myopathy. Results: Of the 112 cases, 74% of the cases were adults. Mean age of presentation was 25 years and 57% of the cases were males. Pediatric cases constituted 26% of the total cases and 71% of them were male patients. Definitive diagnosis following muscle biopsy was made in 58% (n=65) of cases. Routine histological evaluation revealed the diagnosis of inflammatory myopathy 41% (n=46), muscular dystrophy in 34.8% (n=39),7.1% (n=8) neurogenic, 1.78%(n=2) mitochondrial and 0.8%(n=1) congenital myopathy of the cases. Conclusion: The burden of neuromuscular disorders has increased over the years. Molecular tests are not always helpful in diagnosing LGMD and not accessible to everyone. The role of muscle biopsy is inevitable in detecting false positive cases in mitochondrial myopathy, and for the management of Inflammatory myopathies. Awareness of the utility of muscle biopsy, expertise in diagnosing, and diagnostic challenges need more attention of the clinicians, pathologists and orientation of postgraduates to ease the journey of the patients and their families. Keywords: Muscle biopsy, Enzyme histochemistry, Neuromuscular disorders, Mitochondrial myopathy, Inflammatory myopathy, Morphology

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New diagnostic and therapeutic modalities in neuromuscular disorders in children

Chikkannaiah

Reyes

2021

Current Problems in Pediatric and Adolescent Health Care

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Integrated diagnostic approach of pediatric neuromuscular disorders

Cited by 4 publications

References 34 publications

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders

Neuromuscular Disorders: A Histomorphological and Clinicopathological Evaluation in a Tertiary Care Centre

New diagnostic and therapeutic modalities in neuromuscular disorders in children

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