TY - JOUR
T1 - Nondystrophic myotonia
T2 - Challenges and future directions
AU - Trivedi, Jaya R.
AU - Cannon, Stephen C.
AU - Griggs, Robert C.
PY - 2014/3
Y1 - 2014/3
N2 - Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Common symptoms include muscle stiffness, transitory weakness, fatigue, and pain. Although seldom life-shortening, these myotonias cause life-time disability and affected individuals cannot perform many daily activities. A notable feature of the recessive form of chloride channelopathies is the presence of transient weakness. While there has been considerable progress in skeletal muscle channelopathies with regards to identifying biophysical abnormalities, the mechanism of transient weakness remains unclear. A recent study published in Experimental Neurology (Desaphy et al., 2013) explored this question further by comparing the biophysical properties of 3 chloride channel mutations associated with recessive myotonia congenita, with varying susceptibility to transient weakness. The authors identified a variety of functional defects in channel behavior among the 3 mutations, suggesting that this variability contributes to the differing phenotypes among chloride channelopathies. This commentary discusses nondystrophic myotonias, the results of Desaphy et al., and the treatment challenges in this rare disease.
AB - Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Common symptoms include muscle stiffness, transitory weakness, fatigue, and pain. Although seldom life-shortening, these myotonias cause life-time disability and affected individuals cannot perform many daily activities. A notable feature of the recessive form of chloride channelopathies is the presence of transient weakness. While there has been considerable progress in skeletal muscle channelopathies with regards to identifying biophysical abnormalities, the mechanism of transient weakness remains unclear. A recent study published in Experimental Neurology (Desaphy et al., 2013) explored this question further by comparing the biophysical properties of 3 chloride channel mutations associated with recessive myotonia congenita, with varying susceptibility to transient weakness. The authors identified a variety of functional defects in channel behavior among the 3 mutations, suggesting that this variability contributes to the differing phenotypes among chloride channelopathies. This commentary discusses nondystrophic myotonias, the results of Desaphy et al., and the treatment challenges in this rare disease.
KW - CLCN1
KW - Myotonia
KW - Non-dystrophic myotonia
KW - Paramyotonia
KW - SCN4A
UR - http://www.scopus.com/inward/record.url?scp=84891893330&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84891893330&partnerID=8YFLogxK
U2 - 10.1016/j.expneurol.2013.12.005
DO - 10.1016/j.expneurol.2013.12.005
M3 - Comment/debate
C2 - 24361411
AN - SCOPUS:84891893330
SN - 0014-4886
VL - 253
SP - 28
EP - 30
JO - Experimental Neurology
JF - Experimental Neurology
ER -