多巴反应性肌张力障碍10例分析

目的认识多巴反应性肌张力障碍的临床特征,以期早期诊治,并加深对该病的认识。方法对10例DRD患者进行临床分析。结果10例患者,男3例,女7例,发病年龄4~28岁,平均12岁,首发症状均为肌张力障碍,下肢起病者8例,上肢起病2例,全部病人均有晨轻暮重的现象,给予美多巴62.5~125mg/d治疗有显著疗效。结论DRD是一种较为罕见的遗传性运动障碍疾病,小剂量多巴制剂有显著、持续疗效,早期治疗效果好,需与其他肌张力障碍相鉴别。     

多巴反应性肌张力障碍12例分析

目的:分析多巴反应性肌张力障碍(dopa-responsive dystonia,DRD)的临床特点。方法:对12例DRD患者进行临床分析。结果:12例患者,男4例,女8例,发病年龄6～30岁,平均发病年龄13岁,首发症状均为肌张力障碍,下肢起病者10例,上肢起病2例,全部病人均有晨轻暮重的现象,服用小剂量美多巴疗效显著。结论:多巴反应性肌张力障碍具有独特的临床表现和有效的治疗。     

多巴反应性肌张力障碍临床分析及文献复习

目的 探讨多巴反应性肌张力障碍(DRD)患者的临床特点.方法 对2例DRD患者的临床资料进行详细分析.结果 2例患者均为成人起病的DRD,具备DRD的特征性临床表现.结论 DRD有特征性的临床表现及特殊治疗方法,如能早期诊断,早期使用小剂量左旋多巴制剂治疗且维持用药则预后良好.     

多巴反应性肌张力障碍36例临床分析

目的探讨多巴反应性肌张力障碍的病因、临床特点和治疗。方法回顾性分析36例多巴反应肌张力障碍患者的临床资料。结果 36例中男8例,女28例,其中包含2个家系。发病年龄平均9.5岁。均为缓慢起病,首发症状为始自下肢的肌张力障碍者32例,4例以帕金森病样表现起病。症状均呈晨轻暮重。头颅CT、MRI、神经电生理等检查均正常。小剂量多巴制剂治疗有明显疗效。结论本病临床特征显著,只要认识到位,诊断不难,小剂量多巴制剂治疗效果好。     

多巴反应性肌张力障碍(附28例临床分析)

目的 :加强对多巴反应性肌张力障碍 (DRD)的认识和重视。方法 :对 2 8例 DRD患者的临床资料进行回顾性分析。结果 :本组男 7例 ,女 2 1例 ,男女之比为 1∶ 3,3个月～ 16岁发病 2 2例 ,2 3～ 33岁发病 6例 ,平均病程13.5年。有家族史者 14例。均为慢性起病 ,首发症状多从下肢肌张力障碍开始 ,起病数年或十数年内缓慢发展 ,伴或不伴帕金森症表现和锥体束征 ,症状有明显的昼间波动性 ,晨轻暮重 ,长期小剂量多巴制剂有持久恒定的疗效。结论 :本病是一种较为罕见的遗传性运动障碍性疾病 ,临床上有独特的临床表现及特效的治疗方法 ,早期诊治 ,预后良好     

多巴反应性肌张力障碍32例临床分析

目的 探讨多巴反应性肌张力障碍(dopa-responsive dystonia, DRD)的临床特点.方法 对32例DRD患者从发病年龄,临床症状与体征及其治疗等方面进行回顾性分析.结果 32例患者,男10例,女22例,发病年龄为2-37岁.未成年发病多以肌张力障碍为首发症状,成年期发病多以帕金森综合征起病.未成年发病患者表现日间症状波动性大且腱反射亢进的发生率较高,而成年期发病患者姿势性震颤发生率较高.未成年发病患者中有家族史者占50%,而在成年期起病患者有家族史者占75%.以性别分组后,男性多以肌张力障碍起病,女性这一表现并不明显.对32例患者进行小剂量左旋多巴治疗,有持续明显的疗效.结论 DRD患者具有临床表现多样化的特点,临床表现与年龄密切相关.小剂量左旋多巴对DRD患者具有显著而持久的疗效.     

多巴反应性肌张力障碍的临床特点

目的探讨多巴反应性肌张力障碍（DRD）的病因、临床特点及治疗方法，加强对该病的认识。方法对13例确诊的DRD患者的临床资料进行回顾性分析。结果本组发病年龄为（14．69±4．01）岁（10～27岁），病程6月～16年。最常见的临床表现为步态、姿势异常及震颤，症状日间波动明显，容易误诊为脑瘫、帕金森病、神经症等。服用小剂量多巴制剂有显著而持久的疗效。结论DRD患者具有症状多样及日间波动的特点。对儿童及青壮年本病患者可首选小剂量左旋多巴试验性治疗。     

多巴反应性肌张力障碍一家2例报告并文献复习

<正>多巴反应性肌张力障碍(DRD),又称为伴有明显昼间波动的遗传性进行性肌张力障碍(HPD)或Segawa病,是一种好发于儿童或青少年,以肌张力障碍或步态异常为首发症状的较为罕见的遗传性运动障碍性疾病,国内最早由朱文梅等[1]于1994年报道一个家系4例DRD,其临床特点为症状的昼间波动性,以及小剂量多巴类制剂对其有显著疗效,故对此病应予充分的认识和重视,以免误诊。笔者发现一家2     

Segawa病3例报告

Segavca病又称多巴反应性肌张力障碍(dopa—respon—sive dystonia，DRD)。本病为青少年起病的肌张力障碍，经常导致进行性致残的疾病，是可治疗的肌张力障碍疾病。其典型特点是昼间症状多变，儿童期起病的步态紊乱，并对小剂量左旋多巴有戏剧性和持久性反应。本病较罕见，据估计，日本和英国的发病率为1／200万，但迄今为止，国内仅报道过1个家系。现将我院1998～2002年收治的3例Segawa病报告如下。     

多巴反应性肌张力障碍的临床特点

目的分析对多巴反应性肌张力障碍(DRD)的临床特点。方法回顾性分析15例确诊的DRD患者的临床特点及误诊原因。结果本组男4例,女11例,病程2—29年,平均12．1年。女性患者多在妊娠、分娩后症状明显加重,最常见的临床表现为步态、姿势异常及震颤,可伴假性锥体束征,症状日间波动明显,容易误诊为脑瘫、扭转痉挛、原发性震颤、帕金森病、神经症等。本组患者服用小剂量关多巴后2周内均明显好转,随访2～4年基本恢复正常。结论DRD患者具有症状多样及日问波动的特点。对儿童及青壮年本病患者可首选小剂量左旋多巴试验性治疗。     

Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family

We examined 106 members of a family affected with dopa-responsive dystonia (DRD), a subset of idiopathic dystonia. Ten members had unequivocal dystonia; 8 of these had generalized dystonia and the other 2 had focal dystonias (writer's cramp and spastic dysphonia). Twenty members had lesser dystonic signs and symptoms suggestive of a diagnosis of dystonia. Five members, including 1 with dystonia, had prominent parkinsonism that became symptomatic in late adulthood. All members affected with dystonia or parkinsonism had increased muscle tone (rigidity), which may represent the minimal clinical expression of DRD. Gene penetrance in families with DRD may be greater than previously suspected.     

多巴反应性肌张力障碍临床分析

目的回顾性分析多巴反应性肌张力障碍患者的临床特点和治疗原则。方法选择2005年3月-2010年7月门诊或住院治疗且诊断明确的多巴反应性肌张力障碍患者,面对面采集临床资料并门诊或电话随访,对其性别、年龄、发病年龄、家族史、首发症状、就诊症状、诊断延误时间及治疗过程进行分析。结果共21例患者入组,男4例、女17例,平均发病年龄(7.19±3.40)岁,平均诊断延误时间(13.76±11.38)年。均以肢体肌张力障碍为首发症状,20例(95.24%)呈现晨轻暮重现象,6例(28.57%)伴帕金森样症状,2例(9.52%)伴痉挛性截瘫;经小剂量左旋多巴/多巴丝肼治疗后症状显著缓解。随访l 8例患者,仅1例治疗后仍遗留肢体残疾;3例失访。随访期间左旋多巴/多巴丝肼平均维持剂量(175.35±113.51)mg/d,3例患者辅助应用盐酸苯海索(4～6 mg/d)治疗。结论多巴反应性肌张力障碍患者多于儿童期以肢体肌张力障碍发病,小剂量左旋多巴/多巴丝肼治疗效果显著。因此,对于儿童肌张力障碍或青年帕金森样症状患者应行小剂量左旋多巴/多巴丝肼诊断性治疗,以降低多巴反应性肌张力障碍的误诊率。     

多巴反应性肌张力障碍临床分析

目的回顾性分析多巴反应性肌张力障碍患者的临床特点和治疗原则。方法选择2005年3月-2010年7月门诊或住院治疗且诊断明确的多巴反应性肌张力障碍患者,面对面采集临床资料并门诊或电话随访,对其性别、年龄、发病年龄、家族史、首发症状、就诊症状、诊断延误时间及治疗过程进行分析。结果共21例患者人组,男4例、女17例,平均发病年龄（7．19±3．40）岁,平均诊断延误时间（13．76±11.38）年。均以肢体肌张力障碍为首发症状,20例（95．24％）呈现晨轻暮重现象,6例（28．57％）伴帕金森样症状,2例（9．52％）伴痉挛性截瘫;经小剂量左旋多巴,多巴丝肼治疗后症状显著缓解。随访18例患者,仅1例治疗后仍遗留肢体残疾;3例失访。随访期间左旋多巴／多巴丝肼平均维持剂量（175．35±113．51）mg／d,3例患者辅助应用盐酸苯海索（4.6mg／d）治疗。结论多巴反应性肌张力障碍患者多于儿童期以肢体肌张力障碍发病,小剂量左旋多巴／多巴丝肼治疗效果显著。因此,对于儿童肌张力障碍或青年帕金森样症状患者应行小剂量左旋多巴,多巴丝肼诊断性治疗,以降低多巴反应性肌张力障碍的误诊率。     

Dopa-responsive dystonia and Tourette syndrome in a large Danish family

BACKGROUND: Guanosine triphosphate cyclohydrolase I (GTPCH) catalyzes the first step in the synthesis of tetrahydrobiopterin (BH4). Autosomal dominantly inherited defects in the GTPCH gene (GCH1) cause a form of dystonia that is responsive to treatment with levodopa (dopa-responsive dystonia [DRD]). OBJECTIVE: To investigate molecular and clinical aspects of DRD in a large Danish family. METHODS: For analysis of the GCH1 gene, a mutation-scanning method based on denaturing gradient gel electrophoresis (DGGE) was used. A novel mutation, X251R, was identified in the GCH1 gene of 2 distantly related Danish patients with DRD, one of whom also had Tourette syndrome (TS). Thirty-five additional family members were investigated for this mutation, and 16 of them underwent clinical neurological examination. RESULTS: A total of 18 patients were heterozygous for the X251R allele, 16 of whom had neurological complaints spanning from very mild parkinsonism to severe invalidism due to dystonia. Of 13 symptomatic heterozygotes who had been neurologically examined, 10 had signs of dystonia or parkinsonism. Sixteen of the heterozygotes were treated with levodopa, and 13 reported a treatment benefit. Three of the symptomatic heterozygotes had signs of TS. CONCLUSIONS: This study confirms the large variability in DRD symptoms and emphasizes the usefulness of molecular analysis for diagnosis and treatment of DRD. The presence of TS is suggested to be coincidental, though the development of TS-like symptoms due to mutations in GCH1 cannot be excluded.     

Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family

The clinical spectrum of spinocerebellar ataxia 3 (SCA 3) disease is wide and varied. We describe a Chinese patient with a mutation at the SCA 3 locus with clinical features of levodopa-responsive dystonia. The family history was suggestive of being autosomally dominant. Levodopa responsiveness though rare has been described in families with features of parkinsonism. Noteworthy is the relatively late onset of disease (>40 years) possibly explained by the low number of affected alleles at 59, the usual range being from 62 to 86, with the lowest recorded number at 56. This expands the wide and varied phenotypic manifestations of SCA 3, and highlights the observation that features suggestive of levodopa-responsive dystonia (DRD) such as focal dystonia, gait difficulty with diurnal fluctuation of symptoms, and a marked response to low doses of levodopa can be presenting features of SCA 3. SCA 3 should be considered a differential diagnosis in adult patients who present with DRD phenotype and with a positive family history.     

Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia.

Dopa-responsive dystonia (DRD) is one form of childhood-onset idiopathic torsion dystonia. Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expression of the disease. We report a family with DRD in which 2 women and 1 man, unaffected by dystonia, developed tremor-onset parkinsonism after age 50 years. The women continue on a low dosage of levodopa after 9 and 13 years of treatment, with a stable, nearly complete, symptomatic response. This contrasts to the typical long-term treatment complications observed in patients with Parkinson's disease. We assessed nigrostriatal dopaminergic function in the proband, with typical DRD, and the 2 women with parkinsonism using 6-[18F]fluoro-L-dopa positron emission tomography. All 3 had normal striatal 6-[18F]fluoro-L-dopa uptake. These observations provide compelling evidence that "benign" adult-onset parkinsonism may be an expression of the disease in some members of families with DRD and does not support consideration of the DRD gene as a risk factor for development of Parkinson's disease. There may be considerable clinical heterogeneity in DRD depending on the age at onset.     

多巴反应性肌张力障碍

目的：探讨多巴反应性肌张力障碍的临床特点及治疗。方法：观察6例来自4个家族患者的临床表现,辅检查及对左旋多巴治疗的反应。结果：1例儿童期、2例少年期起病者,首发症状均为下肢肌张力异常、足跟着地困难;3例青年起病者表现为震颤、本例题硬;3例出现病理征阳性;6例症状均呈晨轻暮重。服用多巴制剂1－6天内有明显疗效,用药最长者（2例）达7年,未增加剂量。结论：该病临床特点较明显,多巴制剂对其有快速、显著、持续的疗效。     

Broadening the phenotype of childhood-onset dopa-responsive dystonia

BACKGROUND: Dopa-responsive dystonia (DRD) may cause early-onset dystonia, with extrapyramidal or pyramidal tract dysfunction. OBJECTIVE: To broaden the phenotype of DRD. SETTING: Tertiary referral university hospital. PATIENTS: We describe 4 female siblings with genetically confirmed DRD, 3 of whom presented with "unsteadiness" and 1 with scoliosis. All had dystonia and pyramidal tract signs, 3 had additional extrapyramidal features (resting tremor, bradykinesia, or rigidity), and at least 2 had definite signs of cerebellar dysfunction. MAIN OUTCOME MEASURES: The subjective response to treatment with 62.5 mg of a combination product of levodopa and carbidopa 3 times daily was assessed at both 6- and 12-month follow-up visits with the 7-item Patient's Global Impression of Change Scale as very much improved, much improved, a little improved, no different, a little worse, much worse, or very much worse. RESULTS: All patients showed a good response to levodopa therapy 41 to 49 years after symptom onset. CONCLUSION: Cerebellar signs may be observed in patients with DRD and may improve in response to levodopa.