Paramyotonia congenita of Von Eulenburg
ORPHA:684· ICD-10 G71.1
Definition
A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal