Inherited myotonic disorders

What are the inherited myotonic disorders?

• Myotonic dystrophy type 1 (DM1)

• Myotonic dystrophy type 2 (DM2) (formerly known as proximal myotonic myopathy or PROMM)

• Myotonia congenita (Thomsen disease, Becker’s disease ∗ Autosomal recessive inheritance; all other conditions are autosomal dominant inheritance.)

• Paramyotonia congenita

• Periodic paralysis (hypokalemic, normo/hyperkalemic)

• Chondrodystrophic myotonia ∗ (Schwartz–Jampel syndrome)


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