ORPHA:684
Paramyotonia congenita of Von Eulenburg
Also called Paramyotonia congenita
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:684 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Neonatal hypotonia
- Dysphagia
- Myotonia
- Myalgia
- Muscle stiffness
- Neonatal inspiratory stridor