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Westphall Disease



Westphall Disease Causes


It is caused by mutations in the dihydropyridine receptor calcium channel encode at chromosome 1q31-q32 (261, 262) (Miller,N.,Burton,F, et al. (2005). Walso and Hoyt's Clinical Neuro-Opthalmology, Lippincott Williams and Wilkins, p.1104). It is an inherited disorder.


Westphall Disease Definition


Westphall disease otherwise known as the Hypokalemic periodic paralysis is a rare channelopathy where there is weakness in the muscle and even cause paralysis accompanying a fall in the level of potassium in the blood. It often begins in adolescence and is usually triggered of strenuous exercise followed by rest, high carbohydrate meals and sudden changes in the temperature.


Westphall Disease Diagnosis


Diagnosis includes the use of Compound Muscle Amplitude Potential or the CMAP test and the exercise EMG or X-EMG. Also examination of patient's history or report of serum potassium low normal and genetic diagnosis.


Westphall Disease Symptoms and Signs


Symptoms includes muscle weakness, muscle stiffness and muscle cramps.


Westphall Disease Treatment


Treatment includes mainly on preventing further attacks and relieving acute symptoms. Administration of Acetazolamide or carbonic anhydrase inhibors along with a diet which avoids carbohydrate-rich meals and strenuous exercises are also advised.


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