Wu Laura J C, Jankovic Joseph
Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
J Neurol Sci. 2006 Dec 21;251(1-2):73-6. doi: 10.1016/j.jns.2006.09.003. Epub 2006 Nov 9.
Adult-onset focal dystonia in the upper limbs is well characterized whereas such dystonia has been rarely reported in the lower limbs, especially in proximal parts. When such focal dystonia occurs in an athlete it is often wrongly attributed to an orthopedic disorder. We present five cases, three female and two male with mean age of 44.6+/-10.43 years, mean age at onset of 37.4+/-10.33 years, and mean duration of symptoms for 7.2+/-4.44 years, who initially noted dystonia of one leg during long-distance running. The clinical features of dystonia in these long-distance runners overlap with those of more recognizable forms of focal dystonia including relief with sensory or motor "tricks". They also share features with paroxysmal dyskinesia and carbamazepine markedly ameliorated the symptoms at least in one patient. One patient benefited from an oral anticholinergic, one from levodopa, and another two patients benefited from repeat botulinum toxin injections. Our patients differed from the typical childhood-onset leg dystonia, such as the DYT1 dystonia, in that there was no family history of dystonia and the leg dystonia remained focal without spreading to other body parts. Two of our patients had prior injury to the affected leg within 1 year prior to the onset of the dystonia, raising the possibility of peripherally-induced dystonia. We draw attention to this rare, disabling, adult-onset focal dystonia involving proximal lower limbs. When recognized early, it may be treated effectively with either anticholinergic drugs, anticonvulsants, levodopa, or botulinum toxin injections.
成人上肢局灶性肌张力障碍的特征已得到充分描述，而这种肌张力障碍在下肢，尤其是近端部位很少被报道。当这种局灶性肌张力障碍发生在运动员身上时，常常被错误地归因于骨科疾病。我们报告了5例患者，3名女性和2名男性，平均年龄为44.6±10.43岁，平均发病年龄为37.4±10.33岁，平均症状持续时间为7.2±4.44年，他们最初在长跑过程中注意到一条腿出现肌张力障碍。这些长跑运动员中肌张力障碍的临床特征与更典型的局灶性肌张力障碍形式重叠，包括通过感觉或运动“技巧”缓解症状。它们还与阵发性运动障碍有共同特征，并且卡马西平至少在一名患者中显著改善了症状。一名患者从口服抗胆碱能药物中获益，一名从左旋多巴中获益，另外两名患者从重复注射肉毒杆菌毒素中获益。我们的患者与典型的儿童期起病的腿部肌张力障碍，如DYT1肌张力障碍不同，在于没有肌张力障碍家族史，并且腿部肌张力障碍保持局灶性，未扩散到身体其他部位。我们的两名患者在肌张力障碍发作前1年内受影响的腿部曾有过先前损伤，这增加了外周诱导性肌张力障碍的可能性。我们提请注意这种罕见的、致残性的、成人起病的累及下肢近端的局灶性肌张力障碍。如果早期识别，它可以用抗胆碱能药物、抗惊厥药物、左旋多巴或肉毒杆菌毒素注射有效治疗。
