| Symbol
| PMC
|
| Location
| 17q23.3
|
| Name
|
paramyotonia congenita of von Eulenburg |
| Other name(s)
|
paralysis periodica paramyotonica |
| Corresponding gene
|
SCN4A
|
| Other symbol(s)
| PCE
|
| Main clinical features
|
myotonia, increased by exposure to cold, intermittent flaccid paresis, lability of serum potassium, lack of atrophy or hypertrophy of muscles
muscle biopsies revealed considerable myopathic changes with a variety of fine structural alterations |
| Genetic determination
| autosomal dominant |
| Related entries
| . including potassium-aggravated myotonia, mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia (OMIM : 608390), painful muscle stiffness that was provoked by fasting and oral potassium administration
|
| Function/system disorder
| neuromuscular |
|
| neurology |
| Type
| disease
|