Welcome to Scribd, the world's digital library. Read, publish, and share books and documents. See more ➡
Download
Standard view
Full view
of .
Add note
Save to My Library
Sync to mobile
Look up keyword
Like this
3Activity
×
0 of .
Results for:
No results containing your search query
P. 1
Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes

Ratings: (0)|Views: 1,052|Likes:

More info:

Categories:Types, Research
Published by: Lakshya J Basumatary on Sep 24, 2010
Copyright:Attribution Non-commercial

Availability:

Read on Scribd mobile: iPhone, iPad and Android.
download as PDF, PPTX, TXT or read online from Scribd
See More
See less

03/05/2014

pdf

text

original

 
Congenital Myasthenic Syndromes
L.J.BasumataryMD, DM Neurology ResidentGauhati Medical College & HospitalGuwahati
drbasumatary@gmail.com
 
CMS : mutations that alter the expression and function of 
 ±
ion channels,
 ±
receptors,
 ±
enzymes, or
 ±
other accessory molecules needed to maintain the safety margin of NMT
Important cause of seronegativemyasthenia.
Advances in molecular genetics and correlation of molecularbiology with microphysiology, morphologic studies, clinicalelectrophysiology, and clinical observations have led to abetter understanding of the pathophysiologyof CMS
Many CMS can be Dxand in many cases given specific Rx,based on the results of clinical information and Edxevaluation
 
Heterogeneous group of NM disorderscaused by genetic defects of endplatemolecules involved in NM transmission
(
Engel and Sine, 2005)
Present in infancy, childhood or later.
May resemble
Neonatal or adult-onset myasthenia gravis
(
MG)
Lambert-Eatonsyndrome
(
LES).

Activity (3)

You've already reviewed this. Edit your review.
1 thousand reads
1 hundred reads
hazeemmegahed liked this

You're Reading a Free Preview

Download
/*********** DO NOT ALTER ANYTHING BELOW THIS LINE ! ************/ var s_code=s.t();if(s_code)document.write(s_code)//-->