Sandbox WWC3: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 54: | Line 54: | ||
===Hyperkalemic Periodic Paralysis=== | ===Hyperkalemic Periodic Paralysis=== | ||
Hyperkalemic period paralysis is caused by the mutations Thr704Met; Ser906Thr; Ala1156Thr; Met1360Val; Arg1448Cys and/or Met1592Val<ref name = "Hyper">http://neuromuscular.wustl.edu/mother/activity.html#hrpp</ref>. These mutations cause periodic or permanent weakness<ref name = "Hyper/>. | Hyperkalemic period paralysis is caused by the mutations Thr704Met; Ser906Thr; Ala1156Thr; Met1360Val; Arg1448Cys and/or Met1592Val<ref name = "Hyper">http://neuromuscular.wustl.edu/mother/activity.html#hrpp</ref>. These mutations cause periodic or permanent weakness<ref name = "Hyper"/>. Physiologically, this is a gain of function mutation. During rest after exercise, or after eating foods rich in K+, the extracellular K+ increases, which mildly depolarizes the membrane<ref name = "Hyper"/>. This causes abnormal Na+ channels to open, and they are unable to inactivate <ref name = "Hyper"/>. This sustained depolarization of the membrane causes even more abnormal Na+ channels to open and ultimately this leads to loss of excitability and weakness <ref name = "Hyper"/>. This symptom usually appears within the first decade of life and can be aggravated by exercise, cold, potassium loading, fasting or pregnancy <ref name = "Hyper"/>. Attacks are usually brief and do not need treatment<ref name = "Hyper"/>. | ||
===Hypokalemic Periodic Paralysis=== | ===Hypokalemic Periodic Paralysis=== | ||
