Integrated diagnostic approach of pediatric neuromuscular disorders
Journal of Genetic Medicine
;
: 55-63, 2018.
Article
in English
| WPRIM
| ID: wpr-719112
ABSTRACT
Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pediatrics
/
Phenotype
/
Genetic Testing
/
Genetic Heterogeneity
/
Molecular Diagnostic Techniques
/
Diagnosis
/
Genetic Counseling
/
Molecular Biology
/
Neuromuscular Diseases
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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