Non-dystrophic myotonias panel

Non-dystrophic myotonias panel

[8 genes]

TOURNAROUND TIME: 6 WEEKS

ATP2A1 CACNA1S CLCN1 HSPG2
KCNJ18 KCNJ2 KCNJ5 SCN4A
RELATED PHENOTYPES
Myotonia congenita (Thomsen / Becker) CLCN1
Myotonia congenita
Paramyotonia congenita
Hyper/hypokalemic periodic paralysis
SCN4A
Hypokalemic periodic paralysis CACNA1S
Brody myopathy ATP2A1
Andersen-Tawil syndrome KCNJ2, KCNJ18, KCNJ5
Schwartz-Jampel syndrome HSPG2
  • Myotonia refers to a neurological symptom that describes difficulty in muscle relaxation after contraction. There may be an involvement pattern, although any muscle group can be affected.
    Among hereditary myotonias, there are mainly two groups:

    • Dystrophic myotonia (or myotonic dystrophy, whose main form is also known as DM1 or Steinert disease): Its prevalence is estimated to be about 1/8 000 individuals. Clinically, it is a multisystem disease where myotonia is accompanied by muscle weakness, cardiac conduction problems, cataracts, and endocrine and gastrointestinal alterations. Its molecular mechanism consists of a trinucleotide expansion in the DMPK gene; therefore, its diagnosis requires a specific test.
    • Non-dystrophic myotonias belong to the group of channelopathies, and their genetic defect determines the occurrence of symptoms including myotonia as well as weakness, myalgias, episodes of paralysis, etc.
    REFERENCES
    1. Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 2012; 11:891.
    2. Miller TM. Differential diagnosis of myotonic disorders. Muscle Nerve 2008; 37:293

 

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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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