Описанные MUSK мутации в гетерозиготном состоянии не влияют на здоровье человека в отличие от мутаций в коннексине, Ваше состояние больше похоже на периодический гипокалемический паралич, чем на миастению.
Supportive diagnostic criteria for Hypokalemic periodic paralysis:
Two or more attacks of muscle weakness with documented serum K <3.5 mEq/L
One attack of muscle weakness in the proband, and 1 attack of weakness in 1 relative with documented serum K <3.5 mEq/L in at least 1 attack
Three of 6 clinical or laboratory features:
Onset in the first or second decade
Attack duration (muscle weakness involving 1 or more limbs) > 2 hours
Positive triggers (high carbohydrate rich meal, rest after exercise, stress)
Improvement with potassium intake
Positive family history or genetically confirmed skeletal calcium or sodium channel mutation
Positive McManis long exercise test
|