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paramyotonia congenita of von Eulenburg (PMC)
Pathology:
- nonprogressive nature
- lack of atrophy or hypertrophy of muscles
Genetics:
- autosomal dominant
- associated with defects in SCN4A (Na+ channel alpha subunit)
Clinical manifestations:
- myotonia, increased by exposure to cold
- intermittent flaccid paresis, not necessarily dependent on cold or myotonia
- in some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis)
- patients may have a combination phenotype of PMC & HYPP
Laboratory:
- lability of serum K+
Related
familial periodic paralysis (hyperkalemic, normokalemic, hypokalemic, HYPP, NKPP, HYPOPP)
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM correlations
MORBIDMAP 603967
References
Periodic Paralysis International
- Paramyotonia Congenita & Paramyotonia Syndromes
https://hkpp.org/physicians/pmc