Myotonia Congenita

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Clinical Features

Clinical Features of AR vs AD Myotonia Congenita[1]
Feature AR Myotonia Congenita AD Myotonia Congenita
Age of onset Early childhood Early infancy
Muscle stiffness Generalized, legs>arms Generalized, arms>legs
Muscle hypertrophy Generalized Generalized
Pain Very common Common
Transient muscle weakness Common Not present
Distal muscle weakness Rarely Not present
Proximal muscle weakness Rarely Not present

References

Literature Review