Description An inherited disord...
Description
An inherited disorder characterized by intermittently low potassium levels in the blood and muscle weakness. The symptoms come and go and the disease usually manifests itself during the teenage years. The episodes last hours to a day. This disorder is rare and is an autosomal dominant disorder meaning that even if only one parent gives the affected gene to a person the person will have the disease.
Symptoms
Intermittent weakness (most commonly in the hips and shoulders) that tends to occur after: exercise, fasting, eating a high carbohydrate meal, or drinking alcohol.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. Additional tests include the measurement of the potassium level during an episode of weakness.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Electrocardiogram (EKG)
Specialists:
Internal Medicine, Neurology, Pediatrics, Family Practice, Pediatric Neurology, Diabetes, Endocrinology and Metabolism
Workup:
A history and physical exam will be performed. Additional tests include the measurement of the potassium level during an episode of weakness.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Electrocardiogram (EKG)
Specialists:
Internal Medicine, Neurology, Pediatrics, Family Practice, Pediatric Neurology, Diabetes, Endocrinology and Metabolism
Treatment
Immediate treatment of life threatening breathing problems and/or heart arrhythmia is necessary. The potassium will be repleted with oral and/or intravenous supplements. The medications acetazolamide, triamterene, and spironolactone can reduce recurrences. Eating regular meals, a low carbohydrate diet and moderation (or elimination) of alcohol consumption may reduce the frequency of attacks as well.