Sławek Jarosław, Friedman Andrzej, Bogucki Andrzej, Budrewicz Sławomir, Banach Marta
Klinika Neurochirurgii-Oddział Neurochirurgii Czynnościowej i Chorób Układu Pozapiramidowego, Akademia Medyczna w Gdańsku.
Neurol Neurochir Pol. 2003;37 Suppl 5:117-26.
Authors present 6 cases of dopa responsive dystonia (DRD) with delayed diagnosis. DRD was firstly described by Segawa et al. in 1976, but in 90's its genetic linkage to chromosomes 14 and 11 was proven. It resulted in possible effective treatment (substitution with low dosages of levodopa). Nevertheless, the correct diagnosis is difficult. DRD usually starts as a foot dystonia with gait difficulties and subsequent overflow of dystonic movements to other muscles and parts of the body, with parkinsonian features and pyramidal signs in part of cases. Diurnal fluctuations with deterioration in the evening are typical for DRD. Dystonia starting in lower extremities may be misdiagnosed with cerebral palsy, what may have consequences in surgical interventions (as in our two cases). Authors present diagnostic difficulties in 6 cases with diagnosis made after 5 to almost 30 years after onset of symptoms and with several surgical interventions performed in 2 cases. The trial with levodopa is crucial for diagnosis and treatment, because low dosages are effective and there are no typical for juvenile parkinsonism treatment complications as dyskinesias and/or fluctuations. The take home message from literature and presented material should be not age dependent clinical trial with levodopa therapy in all cases of dystonia starting in extremities.
作者报告了6例诊断延迟的多巴反应性肌张力障碍（DRD）病例。DRD于1976年由Segawa等人首次描述，但在90年代，其与14号和11号染色体的基因连锁关系得到证实。这使得可能进行有效的治疗（用低剂量左旋多巴替代）。然而，正确诊断很困难。DRD通常始于足部肌张力障碍，伴有步态困难，随后肌张力障碍性运动蔓延至身体的其他肌肉和部位，部分病例伴有帕金森特征和锥体束征。DRD的典型表现是症状在傍晚加重的日波动现象。始于下肢的肌张力障碍可能被误诊为脑瘫，这可能会在手术干预中产生后果（如我们的两例病例）。作者介绍了6例病例的诊断困难，这些病例在症状出现后5年至近30年才得以诊断，其中2例还进行了多次手术干预。左旋多巴试验对诊断和治疗至关重要，因为低剂量有效，且不存在青少年帕金森病治疗中典型的并发症，如运动障碍和/或症状波动。从文献和所展示的病例中应得出的关键信息是，对于所有始于四肢的肌张力障碍病例，均应进行不依赖年龄的左旋多巴治疗临床试验。
