A nonprogressive muscular disease characterised by a predilection to spasms (generalised myotonia), particularly in the face, provoked by cold. The myotonia is aggravated by activity, and only the proximal muscles of the limbs, eyelids, and tongue are affected. Symptoms are present from infancy. It is clinically similar to myotnia congenita and is considered a variant of Thomsen's disease. Inheritance is autosomal dominant.
- A. Eulenburg:
Über eine familiäre, durch 6 Generationen verfolgbare Form congenitaler Paramyotonie. Neurologisches Centralblatt, Leipzig, 1886, 5: 265-272.
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