8- andersen's syndrome

1- POTASSIUM CHANNEL DISORDER

2-rare disease

3- disease is caused by mutations to the inwardly rectifying potassium channel ( kir ) gene.

4-episodic weakness , cardiac arrythmias and dysmorphic features ( short stature , scoliosis , clinodactyly , hypertelorism , small or prominent low set ears , micrognathia and broad forehead) .

5- cardiac arrythmias are potentially serious and life threatening . they include long QT , ventricular atopy , bidirectional ventricular arrythmias and tachycardia .

6- autosomal dominant inheritance with incomplete penetrance and variable expressivity

7- ACETAZOLAMIDE will decrease the attack frequency and severity .

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AUTOSOMAL DOMINANT CHLORIDE CHANNEL DISORDER - THOMSEN ' S DISEASE

AUTOSOMLA RECESSIVE CHLORIDE CHANNEL DISORDER - BECKER'S DISEASE