Skeletal Muscle Channelopathies

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact quality of life. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis, therapeutic, genetic counseling, and research planning. Electrodiagnostic testing is useful in directing the diagnosis, but has several limitations: patient discomfort, time consuming, and significant overlap of findings in muscle channelopathies. Although genetic testing is the gold standard in making a definitive diagnosis, a mutation might not be identified in many patients with a well-supported clinical diagnosis of periodic paralysis. In the recent past, there have been landmark clinical trials in non-dystrophic myotonia and periodic paralysis which are encouraging as they demonstrate the ability of robust clinical research consortia to conduct well-controlled trials of rare diseases.

Original languageEnglish (US)
JournalNeurotherapeutics
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Channelopathies
Skeletal Muscle
Rare Diseases
Paralysis
Myotonia
Genetic Research
Molecular Pathology
Genetic Counseling
Genetic Testing
Quality of Life
Clinical Trials
Muscles
Mutation
Research

Keywords

  • Channelopathies
  • electrophysiology
  • ion channel
  • non-dystrophic myotonia
  • periodic paralysis

ASJC Scopus subject areas

  • Pharmacology
  • Clinical Neurology
  • Pharmacology (medical)

Cite this

Skeletal Muscle Channelopathies. / Phillips, Lauren T; Trivedi, Jaya R.

In: Neurotherapeutics, 01.01.2018.

Research output: Contribution to journalArticle

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