HK - Periodic Hypokalaemic Polymyopathy/Burmese

Episodic muscle weakness

Description: 
Episodes of low serum potassium levels leading to muscle damages
Symptomes: 
Episodic muscle weakness, muscle pain, ventroflexion of the head and neck, locomotor difficulties
Age d'aparition: 
Between 2 and 10 months old
Fréquence: 
22% carriers
Gène impliqué: 
WNK4
Mutation testée: 
c.2899C>T
Transmission: 
Autosomal Recessive
Brevet: 
-