stiff person spectrum disorder

  • 文章类型: Case Reports
    僵硬的人综合症(SPS)是一种罕见的自身免疫性疾病,其特征是极度疼痛的肌肉痉挛,刚度,和整个身体的刚性。它的稀有性通常转化为患者有限的治疗选择,偶尔,获得明确诊断的挑战。SPS还会影响患者的心理健康,社会和经济参与,和整体生活质量。一名43岁的男子最初因腰椎神经根痛而被发现。由神经科医生做出SPS的临床诊断,并通过临床随访和抗谷氨酸脱羧酶(抗GAD)抗体测试证实。疼痛管理医生同意这一诊断,并提供静脉(IV)氯胺酮治疗,他发现这对类似疾病的治疗有积极影响。在最初的10天输注后,患者报告疼痛和功能改善.近两年来,患者接受静脉注射免疫球蛋白(IVIg)和静脉注射氯胺酮治疗,以控制病情,维持疼痛控制和生活质量.当患者的症状在IVIg输注后开始恶化时,决定退出IVIg输注并继续输注氯胺酮。在停止IVIg输注后,患者报告功能和疼痛水平有所改善,并继续每月接受2天的氯胺酮辅助治疗.除了输液之外,患者能够停止使用芬太尼贴剂并继续服用氯胺酮锭剂,羟考酮-对乙酰氨基酚,和右美沙芬用于家庭疼痛管理。患者的症状继续有效地管理与他们目前的治疗方案,使他们能够重返工作岗位,并提高生活质量。该案例说明了静脉氯胺酮治疗对治疗耐药SPS和类似神经系统和自身免疫性疾病患者的潜在益处。了解和检查罕见综合征的治疗替代方案对于实现最佳患者预后至关重要。此外,记录这些案例提供了对氯胺酮机制的宝贵见解,超越这些综合症。
    Stiff Person Syndrome (SPS) is a rare autoimmune condition marked by extremely painful muscle spasms, stiffness, and rigidity throughout the body. Its rarity often translates to limited treatment options for patients and, occasionally, challenges in obtaining a definitive diagnosis. SPS also impacts patients\' mental health, social and economic involvement, and overall quality of life. A 43-year-old man was initially being seen for lumbar radicular pain. A clinical diagnosis of SPS was made by a neurologist and confirmed by in-clinic follow-ups and anti-glutamic acid decarboxylase (anti-GAD) antibody testing. The Pain Management doctor agreed with this diagnosis and offered intravenous (IV) ketamine treatment, which he has found to positively impact the treatment of similar disorders. After an initial 10-day infusion, the patient reported improvement in pain and function. For almost two years, the patient received intravenous immunoglobulin (IVIg) and IV ketamine treatments to manage their condition and maintain pain control as well as quality of life. When the patient\'s symptoms began worsening after IVIg infusions, the decision to withdraw IVIg infusions and continue ketamine infusions was made. After discontinuing IVIg infusions, the patient reported improvement in function and pain level and continues to receive monthly two-day ketamine boosters. Outside of the infusions, the patient was able to discontinue the use of fentanyl patches and continued taking ketamine lozenges, oxycodone-acetaminophen, and dextromethorphan for at-home pain management. The patient\'s symptoms continue to be managed effectively with their current regimen, enabling their return to work and experiencing an enhanced quality of life. This case illustrates the potential benefits of IV ketamine treatment for patients with treatment-resistant SPS and similar neurologic and autoimmune disorders. Understanding and examining treatment alternatives for rare syndromes is crucial for achieving optimal patient outcomes. Additionally, documenting such cases offers valuable insights into the mechanism of ketamine, extending beyond these syndromes.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    僵硬的人综合征谱系障碍(SPSD)对胃肠道(GIT)的影响尚不清楚。本病例系列旨在描述SPSD患者胃肠道功能障碍的患病率和类型。
    回顾性图表回顾包括诊断为SPSD的个体,其医疗记录中有胃肠道症状的描述。SPSD表型,进行的运动性测试类型,和运动障碍模式(上部,较低,或弥漫性)进行评估。利用描述性统计和单变量卡方分析。
    在240名SPSD患者中,32%报告了胃肠道症状,大多数是女性(83.1%),白人(74%)胃肠道症状发作时的中位年龄为50±13岁。报告的最常见症状是吞咽困难(45%),便秘(40%),恶心/呕吐(23%)。大多数个体有经典SPS(47%),其次是SPS-plus(29%)和82.9%的血清抗GAD65抗体阳性。在36名接受至少一次胃肠动力测试的患者中,26有上层的证据,较低,或弥漫性胃肠动力障碍(44.4%,17%,4%,分别)。未接受测试的组的DM患者比例较高。
    在SPSD患者中,胃肠道症状和转运异常的患病率很高。未来的前景,有必要进行纵向研究,以进一步评估SPSD背景下的胃肠道症状,并确定有胃肠道症状的个体与无胃肠道症状的个体在预后或治疗反应方面是否存在差异.同时,SPSD患者的运动试验阈值应该较低.
    UNASSIGNED: The effect of stiff person syndrome spectrum disorders (SPSD) on the gastrointestinal tract (GIT) is unknown. This case series aims to characterize the prevalence and types of GI dysfunction in individuals with SPSD.
    UNASSIGNED: A retrospective chart review included individuals diagnosed with SPSD with descriptors of GI symptoms in their medical records. SPSD phenotypes, type of motility test performed, and dysmotility pattern (upper, lower, or diffuse) were assessed. Descriptive statistics and univariate chi-square analyses were utilized.
    UNASSIGNED: Of 240 individuals with SPSD, 32% reported GI symptoms, most were female (83.1%), and white (74%), with a median age at time of GI symptom onset of 50 ± 13 years. Most common symptoms reported were dysphagia (45%), constipation (40%), and nausea/vomiting (23%). Most individuals had classic SPS (47%) followed by SPS-plus (29%) and 82.9% were positive for serum antiGAD65 antibodies. Of 36 patients that underwent at least one GI motility test, 26 had evidence of upper, lower, or diffuse GI dysmotility (44.4%, 17%, and 4%, respectively). The group who did not undergo testing had a higher proportion of patients with DM.
    UNASSIGNED: There is a high prevalence of GI symptoms and transit abnormalities in patients with SPSD. Future prospective, longitudinal studies are warranted to further assess GI symptoms in the context of SPSD and to determine if individuals with GI symptoms differ in prognosis or treatment response from those without GI symptoms. In the meantime, there should be a low threshold for motility testing in patients with SPSD.
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