Griggs R C, Moxley R T, Riggs J E, Engel W K
Ann Neurol. 1978 Jun;3(6):531-7. doi: 10.1002/ana.410030614.
Myotonia can occur in the periodic paralyses, particularly the hyperkalemic form. The beneficial response to acetazolamide in hypokalemic and hyperkalemic periodic paralysis has led us to study the effect of acetazolamide in 9 patients with disorders having myotonia as the major problem, 7 with myotonia congenita and 2 with paramyotonia congenita. Patients were studied before acetazolamide administration with glucose and potassium loading tests. All patients had an increase in myotonia with potassium, but no weakness occurred with either test. Acetazolamide treatment decreased myotonia in all patients and in 3 proved the most satisfactory therapy. Side-effects during acetazolamide therapy included paresthesias in 5 patients and renal calculus in 1. Flaccid weakness occurred in a patient with paramyotonia congenita. Acetazolamide treatment was associated in all patients with partially compensated metabolic acidosis and lowering of serum potassium within the normal range. Kaliuresis was also noted during introduction of therapy. Acetazolamide appears to be an acceptable treatment for occasional patients with myotonia who are unresponsive to or intolerant of other therapies.
肌强直可发生于周期性麻痹,尤其是高钾型。乙酰唑胺对低钾型和高钾型周期性麻痹有有益反应,这促使我们研究乙酰唑胺对9例以肌强直为主要问题的疾病患者的作用,其中7例为先天性肌强直,2例为先天性副肌强直。在给予乙酰唑胺之前,通过葡萄糖和钾负荷试验对患者进行研究。所有患者血钾升高时肌强直均加重,但两项试验均未出现肌无力。乙酰唑胺治疗使所有患者的肌强直减轻,3例患者的治疗效果最为满意。乙酰唑胺治疗期间的副作用包括5例患者出现感觉异常,1例患者出现肾结石。1例先天性副肌强直患者出现弛缓性肌无力。所有患者接受乙酰唑胺治疗后均出现部分代偿性代谢性酸中毒,血钾降至正常范围。治疗开始时还观察到尿钾增多。对于其他治疗无反应或不耐受的少数肌强直患者,乙酰唑胺似乎是一种可接受的治疗方法。