Appropriate Tests

These genetic diseases show autosomal dominant inheritance in most cases.

Additional information about genetic tests may be available in Catalogue of Genetic Tests and Laboratories.

Myotonic dystrophy

Molecular genetics - individual genetic disorders for diagnosis and as a guide to clinical severity. See Myotonic dystrophy test.

Muscle biopsy (consult pathologist; special collection procedures are required for open biopsy).

Myotonia congenita


Paramyotonia congenita


Hyperkalaemic periodic paralysis


Potassium, however some cases are normokalaemic.

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