Stiff-Person Syndrome (Moersch-Woltman Syndrome)

Donald Todman

摘要

Introduction In 1956, Dr Frederick Moersch (1889-1975) and Dr Henry Woltman (1889-1964) at the Mayo Clinic reported the first patients with an unusual condition of muscular rigidity and spasms which they called Stiff-Man Syndrome. Their seminal paper presented the details of 14 patients collected over 32 years, an extraordinary length of time for a case series and perhaps unparalleled in the modern era. The condition they described is now known as Stiff-Person Syndrome (SPS) and is recognized as a progressive disorder of symmetric rigidity of axial and proximal limb muscles with associated muscle spasms triggered by startle, voluntary movement, tactile or emotional stimuli. Evidence for an autoimmune aetiology has steadily accumulated and includes the association of other autoimmune diseases notably diabetes mellitus and thyroiditis. The identification of autoantibodies against glutamic acid decarboxylase (GAD), the rate-limiting enzyme for the synthesis of gamma – aminobutyric acid (GABA) has been an important advance in understanding the disease mechanism.;Initial description of stiff-person syndrome The initial description of SPS was by Drs Frederick P Moersch and Henry W Woltman at the Mayo Clinic and reported in the Proceedings of the Staff Meetings of the Mayo Clinic in 1956 (Moersch FP, Woltman HW, 1956). The paper contains the observations of 14 patients examined over 32 years which highlight the clinical skills of these two pioneering neurologists. In 1917 Henry Woltman became the first full-time neurologist at the Mayo Clinic and later succeeded Walter Sheldon (1870-1946) as Chair of Neurology in 1930. Frederick Moersch was a medical student with Henry Woltman at University of Minnesota and joined the Mayo Clinic in 1920 (Mulder D, 1988). From 1917, neurologic education at the Mayo Clinic had its origins in daily conferences in which unusual or instructive cases were discussed. These conferences became an integral part of the clinical routine and were set down between 1.30-2.30pm each day. James Kernohan (1896-1981) originally from Northern Ireland joined as a neuropathology fellow in 1922 and conducted regular brain cutting sessions. Such clinical conferences are now commonplace in neurologic education but at the time represented a major innovation. From these collaborations emerged the collection of cases which they described and which became known by the term they coined, Stiff-Man Syndrome or by the eponym Moersch-Woltman syndrome.The first case was an Iowa farmer who came to the Clinic in the summer of 1924 because of muscle weakness and difficulty walking. The illness had begun insidiously four years earlier in neck muscles and gradually spread to the back and abdominal musculature. The rigidity was punctuated by intermittent and moderately painful spasms sometimes triggered by a noise, a sudden jar or voluntary movement. His gait was slow and awkward and he sometimes might “fall as a wooden man”. Investigations were unremarkable and in the absence of a diagnosis, the “nick name” Stiff-Man Syndrome was given.The authors state “… the clinical picture so imprinted itself on our minds that in the course of the following years we recognised the same syndrome in 13 other cases which were have mentioned.” Of the 14 patients, 10 were male and four female and the average age at onset was 41.5 years. The pattern of predominant axial muscle stiffness, rigidity and tightness with superimposed spasms was evident in all. Notably the condition had been considered functional in its early stages in five cases. All were progressive and responded poorly to treatments including bromides, barbiturates and in one case a 10-day course of tetanus antitoxin because of a resemblance to chronic tetanus. Four of the patients had diabetes mellitus and two had associated epilepsy, one ‘grand-mal' and one ‘petit-mal'.In the conclusion of their seminal study the authors highlight the constant pattern in their patients and add, “… the complet

机译：简介1956年，梅奥诊所的Frederick Moersch博士（1889-1975）和Henry Henry医生（1889-1964）报道了第一批患有异常肌肉僵硬和痉挛的患者，他们称其为“僵硬综合症”。他们的开创性论文介绍了在32年中收集的14名患者的详细信息，这对于一个病例系列来说是非常长的时间，也许在现代时代是空前的。他们描述的疾病现在称为僵硬综合症（Siff-Person Syndrome，SPS），被认为是进行中的肢体轴向和近端肌肉对称性僵硬的进行性疾病，伴有惊吓，自发运动，触觉或情感刺激引起的相关的肌肉痉挛。自身免疫病因学的证据已经稳步积累，并包括其他自身免疫疾病，特别是糖尿病和甲状腺炎。识别γ-氨基丁酸（GABA）合成的限速酶-谷氨酸脱羧酶（GAD）自身抗体，已成为了解疾病发病机理的重要进展。 SPS的作者是Mayo诊所的Frederick P Moersch博士和Henry W Woltman博士，并于1956年在Mayo诊所的员工会议记录中进行了报道（Moersch FP，Woltman HW，1956年）。本文包含了32位患者中14位患者的观察结果，突出了这两位神经病学家的临床技能。 1917年，亨利·沃尔特曼（Henry Woltman）成为梅奥诊所的第一位全职神经病学家，随后在1930年接替沃尔特·谢尔顿（Walter Sheldon（1870-1946））担任神经学主任。在1920年（Mulder D，1988）。从1917年开始，梅奥诊所的神经科教育起源于每天的会议，讨论不寻常或具有指导意义的案例。这些会议已成为日常临床工作不可或缺的一部分，每天在下午1.30-2.30之间举行。来自北爱尔兰的James Kernohan（1896-1981）于1922年以神经病理学专家的身份加入，并定期进行脑切除手术。这样的临床会议现在在神经病学教育中很普遍，但在当时代表了一项重大创新。从这些合作中产生了他们描述的病例集合，这些病例以他们创造的术语，僵硬综合症或同名Moersch-Woltman综合征而广为人知。第一个病例是爱荷华州农民，他于2006年夏天来到诊所。 1924年因肌肉无力和行走困难。该病始于四年前的隐匿性疾病，并逐渐蔓延至背部和腹部肌肉组织。僵硬是由间歇性和中等程度的痉挛引起的，有时由噪音，突然的震颤或随意运动引起。他的步态缓慢而笨拙，有时他可能“像个木人一样摔倒”。研究进展不大，在没有诊断的情况下，给出了“昵称”僵硬综合症。作者说：“……临床情况如此烙印在我们的脑海中，以至于在随后的几年中，我们认识到同一综合症在提到的其他13个案例中。”在14例患者中，男性10例，女性4例，平均发病年龄为41.5岁。在所有情况下，明显的轴向肌肉僵硬，僵硬和紧绷伴有痉挛。值得注意的是，该病在5例的早期阶段就被认为是功能性的。由于与慢性破伤风相似，所有这些疾病都是进行性的，并且对包括溴化物，巴比妥酸盐在内的治疗反应较差，在一种情况下，对破伤风抗毒素的治疗为10天。其中4例患有糖尿病，2例伴有癫痫病，1例为“严重”，1例为“小发作”。在开创性研究的结论中，作者强调了患者的恒定型，并补充说：“…完整

Stiff-Person Syndrome (Moersch-Woltman Syndrome)

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