Linked Life Data

8008003

Source:http://linkedlifedata.com/resource/pubmed/id/8008003

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1994-7-19
pubmed:abstractText
The diagnosis of paramyotonia congenita (PC) can be aided by demonstrating a decrease in compound motor action potential amplitude after exercise and a decrement on repetitive stimulation, following cold exposure. We report a patient with PC who presented with complaints of cold-induced hand and jaw stiffening, in the absence of any episodes of weakness. Treatment with mexiletine led to resolution of the abnormalities exhibited during a short exercise test and repetitive stimulation following ice bath immersion. Molecular genetic analysis revealed a missense mutation (cytosine to thymidine) on chromosome 17 in the alpha-subunit of the skeletal muscle sodium channel gene that results in the replacement of threonine with methionine. This case demonstrates that, despite the absence of weakness, the short exercise test following cold exposure can be used to confirm the diagnosis of PC in patients without episodic weakness. Furthermore, improvement of the electrophysiologic abnormalities with mexiletine was documented, corresponding with clinical improvement.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
763-8
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy.
pubmed:affiliation
University of Texas Health Science Center at San Antonio 78284-7883.
pubmed:publicationType
Journal Article, Case Reports