TY  - CHAP
M1  - Book, Section
TI  - Myotonia Congenita
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
PY  - 2006
T2  - Syndromes: Rapid Recognition and Perioperative Implications
AB  - Rare  genetic  disorder  characterized  by  myotonia,  muscle  stiffness,  and  abnormal  muscle  hypertrophy  that  gives  the  impression  of  Herculean  or  “bodybuilder-like”  appearance.  Two  main  forms  of  myotonia  congenita  have  been  described:  Thomsen  disease  and  Becker  disease.  In  Thomsen  disease,  symptoms  and  findings  are  usually  apparent  from  infancy  to  approximately  2  to  3  years  of  age.  In  many  cases,  muscles  of  the  eyelids,  hands,  and  legs  are  most  affected.  In  Becker  disease,  symptoms  most  commonly  become  apparent  between  the  ages  of  4  and  12  years.  Affected  individuals  develop  progressive  myotonia;  however,  muscle  rigidity  and  hypertrophy  tend  to  be  more  severe.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58077121
ER  -