Document Detail


Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies.
MedLine Citation:
PMID:  10467912     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Advances in molecular genetics are allowing better phenotype to genotype correlation of the non-dystrophic myotonic disorders. We report a 32-year-old woman, who first noted myotonia that was associated with weakness during her first pregnancy. The work-up disclosed that she had Thomsen's disease which is not known to be associated with weakness. In addition, her myotonia was of the fluctuating type and occurred (symptomatically) only during two pregnancies. We discuss the evaluation of myotonia in the pregnant woman which led to the diagnosis of Thomsen's disease and we conclude that in exceptional cases, fluctuating myotonia and weakness occurs in autosomal dominant chloride channel myotonia (Thomsen's disease).
Authors:
D Lacomis; J T Gonzales; M J Giuliani
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical neurology and neurosurgery     Volume:  101     ISSN:  0303-8467     ISO Abbreviation:  Clin Neurol Neurosurg     Publication Date:  1999 Jun 
Date Detail:
Created Date:  1999-11-30     Completed Date:  1999-11-30     Revised Date:  2009-10-14    
Medline Journal Info:
Nlm Unique ID:  7502039     Medline TA:  Clin Neurol Neurosurg     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  133-6     Citation Subset:  IM    
Affiliation:
Department of Neurology, University of Pittsburgh, PA 15213, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Female
Humans
Muscle Weakness / etiology*
Muscle, Skeletal / physiopathology*
Myotonia Congenita / complications*,  physiopathology*
Pedigree
Pregnancy
Pregnancy Complications / physiopathology*

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