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A case report describes a patient with TRPS I in whom syringomyelia and a combined movement-disorder complex were identified, including action tremor and cervical dystonia. Literature review considers syringomyelia secondary to posterior fossa abnormalities and proposes cervical dystonia and action tremor as sequelae of syringomyelia.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/longitudinal-syringomyelia-cervical-dystonia-and-action-tremor-in-trichorhinophalangeal-syndrome-type-i-a-case-report/418741/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/longitudinal-syringomyelia-cervical-dystonia-and-action-tremor-in-trichorhinophalangeal-syndrome-type-i-a-case-report/418741.png","ImageObject",300,407,{"name":92,"@type":93},"Riley West","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-05","2026-09-28",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",12,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What condition is central to this case report?","Question",{"text":113,"@type":114},"The report focuses on a patient with trichorhinophalangeal syndrome type I (TRPS I).","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"What neurological findings are described alongside TRPS I?",{"text":118,"@type":114},"The patient was found to have syringomyelia and a movement-disorder complex including action tremor and cervical dystonia.",{"name":120,"@type":111,"acceptedAnswer":121},"Why do the authors connect cervical dystonia and action tremor to syringomyelia?",{"text":122,"@type":114},"They propose these movement disorders are secondary to syringomyelia, given prior reports of syringomyelia in TRPS I related to posterior fossa abnormalities.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},418741,1790768971,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":29,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145,"preview_page_count":4},1099523885074,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report  \nBOGDANA PETKO   \nBRENT D. WEINBERG  JAIME VENGOECHEA  MATTHEW GARY   \nPAUL A. BEACH   \n*Author affiliations can be found in the back matter of this article  \nABSTRACT  \nBackground: Trichorhinophalangeal syndrome type I (TRPS I) is a rare, autosomal dominant disorder characterized by facial abnormalities, sparse hair, and skeletal deformities, including the skull base.  \nCase Report: We report the case of a patient with TRPS I who was found to have syringomyelia and a movement disorder complex including action tremor and cervical dystonia.  \nDiscussion: Syringomyelia has been reported to occur in TRPS I secondary to posterior fossa abnormalities. We postulate that the patient’s cervical dystonia and action tremor are secondary to syringomyelia. The authors review possible mechanisms and review literature of similar cases.  \nHighlights  \nThis case report describes a patient with trichorhinophalangeal syndrome type I (TRPS I) with syringomyelia as well as action tremor and cervical dystonia. To our knowledge, this is the first report to demonstrate a triad of syringomyelia and two associated movement disorders with sequelae of TRPS I likely the ultimate cause.  \nCASE REPORT  \nCORRESPONDING AUTHOR:  \nPaul A. Beach, DO, PhD  \nDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA  \n[pabeach@emory.edu](pabeach@emory.edu)  \nKEYWORDS:  \nSyringomyelia; cervical dystonia; trichorhinophalangeal syndrome type I  \nTO CITE THIS ARTICLE:  \nPetko B, Weinberg BD, Vengoechea J, Gary M, Beach PA. Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report. Tremor and Other Hyperkinetic Movements. 2025; 15(1): 66, pp. 1–6. DOI: [https://](https://)[ ](https://)[doi.org/10.5334/tohm.1116](doi.org/10.5334/tohm.1116)  \nINTRODUCTION  \nTrichorhinophalangeal syndrome type I (TRPS I) is a rare, autosomal dominant genetic disorder caused by a heterozygous pathogenic variant in TRPS1 on chromosome 8 with about one-third occurring de novo [1, 2]. This gene encodes the Zinc finger transcription factor Trps1 (TRPS1 protein), which plays a role in the development of cartilage, bone, and hair follicles [3]. The disorder is characterized by facial abnormalities, sparse and slow-growing scalp hair, premature baldness, laterally sparse eyebrows, bulbous pear‐shaped nose, elongated and flat philtrum, thin upper lip, and protruding ears [4]. Skeletal abnormalities include cone-shaped epiphyses, clinodactyly, short stature, and hip joint malformations [5]. Bony defects may also include skull base abnormalities, which can lead to posterior fossa abnormalities and cerebellar tonsillar displacement, which in turn may contribute to development of syringomyelia  [6, 7].  \nSyringomyelia, which is frequently associated with Chiari I deformity, is characterized by the formation of a fluid-filled cyst, or syrinx, within the cervical or thoracic spinal cord [8] . Syringomyelia typically impacts neurologic function in the arms and hands, leading to bilateral weakness and deficits in temperature and pain sensation, with intact vibration and proprioception [9] . Syringomyelia has also been implicated in the etiology of movement disorders, including dystonia, myoclonus, tremor, and athetosis [10, 11] . Treatment includes conservative, symptomatic management and, in refractory and disabling cases, surgical intervention. For patients with Chiari I deformity, cranio-cervical decompression is the first line surgical treatment, followed by CSF shunting  [8] .  \nCervical dystonia (CD) is a neurological disorder characterized by involuntary, repetitive head and neck movements [12] . Several neuroanatomical regions are implicated in CD pathophysiology, including the cerebellum, midbrain, and prefrontal, motor, and somatosensory cortices [12] . The involvement of these diverse anato","cbCaigOFfm60Hxh5","https://ap.wps.com/l/cbCaigOFfm60Hxh5","pdf",1812693,"English","# Abstract\n# Introduction\n# Case Report\n## History and Presentation\n## Examination","[{\"question\":\"What condition is central to this case report?\",\"answer\":\"The report focuses on a patient with trichorhinophalangeal syndrome type I (TRPS I).\"},{\"question\":\"What neurological findings are described alongside TRPS I?\",\"answer\":\"The patient was found to have syringomyelia and a movement-disorder complex including action tremor and cervical dystonia.\"},{\"question\":\"Why do the authors connect cervical dystonia and action tremor to syringomyelia?\",\"answer\":\"They propose these movement disorders are secondary to syringomyelia, given prior reports of syringomyelia in TRPS I related to posterior fossa abnormalities.\"}]","Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report | PDF",1790614156,15]