Diagnostics in skeletal muscle channelopathies

Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inac...

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Vydáno v:Expert review of molecular diagnostics Ročník 23; číslo 12; s. 1175 - 1193
Hlavní autoři: Vicino, Alex, Brugnoni, Raffaella, Maggi, Lorenzo
Médium: Journal Article
Jazyk:angličtina
Vydáno: England 02.12.2023
Témata:
Channelopathies - diagnosis
Channelopathies - genetics
Humans
Muscle, Skeletal
Mutation
Myotonia - diagnosis
Myotonia - genetics
Myotonic Disorders - genetics
Paralyses, Familial Periodic
Paralysis
KCNJ5
SCN4A
Non-dystrophic myotonia; periodic paralysis
RYR1 genes
CLCN1
KCNJ2
ISSN:1473-7159, 1744-8352, 1744-8352
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Shrnutí:Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs). SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required. Detailed personal and family history and clinical examination are essential, while neurophysiological tests should confirm myotonia and rule out alternative diagnosis. Moreover, specific electrodiagnostic studies are important to further define the phenotype of de novo cases and drive molecular analyses together with clinical data. Definite diagnosis is achieved through genetic testing, either with Sanger sequencing or multigene next-generation sequencing panel. In still unsolved patients, more advanced techniques, as exome-variant sequencing or whole-genome sequencing, may be considered in expert centers. The diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization of unsolved patients.
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ISSN:1473-7159
1744-8352
1744-8352
DOI:10.1080/14737159.2023.2288258