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familial periodic paralysis (hyperkalemic, normokalemic, hypokalemic, HYPP, NKPP, HYPOPP)
Genetics:
- autosomal dominant
- associated with defect in SCN4A, Na+ channel alpha subunit
- associated with defects in CACNA1S; substitution of highly conserved Arg in the S4 segment of CACNA1S with His or Gly
- associated with defects in KCNE3
Clinical manifestations:
1) onset before 20 years of age
2) episodic flaccid generalized muscle weakness
3) intermittent muscular paralysis of the shoulder & pelvic girdle, other regions involved later in the course of the disease
4) slow, progressive weakness
5) no muscle weakness between attacks
6) absent deep tendon reflexes (DTR)
7) headaches
8) thirst
9) lethargy
Laboratory:
- serum K+ (low, HYPOPP; high HYPP; normal NKPP) during attacks
- CACNA1S gene mutation
Related
paramyotonia congenita of von Eulenburg (PMC)
thyrotoxic hypokalemic periodic paralysis
General
genetic disease of muscle (inherited myopathy)
genetic syndrome (multisystem disorder)
periodic paralysis; hypokalemic periodic paralysis; Andersen-Tawil Syndrome
Database Correlations
OMIM correlations
MORBIDMAP 603967
References
- OMIM :accession 170400
- OMIM :accession 170400
- OMIM :accession 603967
- Ptacek LJ et al
Dihydropyridine receptor mutations cause hypokalemic periodic
paralysis.
Cell 77:863-8 1994
PMID: 8004673