Gamstorp episodic adynamy
Overview
A rare inherited genetic condition characterized by temporary periods of severe muscle weakness. The condition tends to be more severe in males and can be triggered by stress, fasting, rest after exercise and eating foods high in potassium.
Symptoms
* Episodic muscle weakness * Myotonia - during an attack * Heart arrhythmias - during the attacks. * Extreme muscle weakness * Pins and needles sensation
Causes
Mutations in the SCN4A gene cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.
Diagnosis
Home medical testing related to Hyperkalemic periodic paralysis: * Home Pregnancy Tests o Home Early Pregnancy Tests o Home Ovulation Tests o Home Fertility Tests o Home Rhesus/RH Blood Type Tests o Home Fetal Tests * Vaginal Health: Home Testing: o Home Vaginal Infection Tests o Home Vaginal PH Tests o Home Yeast Infection Tests o Home Candida Kits o Home Urinary Tract Infection (UTI) Tests o Home Bladder Tests
Treatment
* Glucose or other carbohydrates can be given during an attack and may reduce the severity. * Intravenous calcium decreases activity of sodium channels. It may stop sudden attacks. * Diuretics such as furosemide may be needed to stop sudden attacks. acetazolamide and thiazide diuretics such as chlorothiazide are also effective. * Intravenous glucose and insulin stimulates potassium uptake into the cell by the Na-K ATPase and may reduce weakness without a loss of total body potassium. * A high-carbohydrate diet may be recommended