Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

Myotonia

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.


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