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Guidelines on clinical presentation and management of nondystrophic myotonias
- Source :
- Muscle & nerve. Supplement., Muscle & nerve. Supplement., 2020, 62 (4), pp.430-444. ⟨10.1002/mus.26887⟩, Muscle Nerve, Muscle and Nerve, 62, 4, pp. 430-444, Muscle and Nerve, 62, 430-444
- Publication Year :
- 2020
- Publisher :
- HAL CCSD, 2020.
-
Abstract
- Contains fulltext : 229739.pdf (Publisher’s version ) (Closed access) The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications.
- Subjects :
- 0301 basic medicine
Physiology
Electromyography
030105 genetics & heredity
0302 clinical medicine
Ranolazine
Age of Onset
NAV1.4 Voltage-Gated Sodium Channel
Carbonic Anhydrase Inhibitors
Fatigue
Voltage-Gated Sodium Channel Blockers
Muscle Weakness
biology
medicine.diagnostic_test
Electrodiagnosis
skeletal muscle channelopathies
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
3. Good health
Muscle relaxation
Paramyotonia congenita
Practice Guidelines as Topic
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
medicine.symptom
myotonia congenita
management
medicine.drug
Myotonic Disorders
Sodium Channel Blockers
musculoskeletal diseases
Weakness
medicine.medical_specialty
Mexiletine
Lamotrigine
Article
03 medical and health sciences
Cellular and Molecular Neuroscience
Chloride Channels
Physiology (medical)
Internal medicine
medicine
Humans
Genetic Testing
[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Muscle, Skeletal
nondystrophic myotonias
CLCN1
Myotonia congenita
business.industry
Myalgia
medicine.disease
Myotonia
paramyotonia congenita
Acetazolamide
biology.protein
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 0148639X
- Database :
- OpenAIRE
- Journal :
- Muscle & nerve. Supplement., Muscle & nerve. Supplement., 2020, 62 (4), pp.430-444. ⟨10.1002/mus.26887⟩, Muscle Nerve, Muscle and Nerve, 62, 4, pp. 430-444, Muscle and Nerve, 62, 430-444
- Accession number :
- edsair.doi.dedup.....84ec05a1420fbda18f320e371bf7d797