Clinical Outcome in Patients With Syringomyelia(COPSM)
Syringomyelia/HydromyeliaThe aim of this study is to determine the clinical spectrum and natural progression of Syringomyelia (SM) and related disorders in a prospective single center study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the etiology and molecular mechanisms of these diseases.
A Prospective Natural History Study of Patients With Syringomyelia
SyringomyeliaArnold Chiari DeformityBackground: Syringomyelia is a disorder in which a cyst (syrinx) forms within the spinal cord and causes spinal cord injury, with symptoms worsening over many years, including paralysis, loss of sensation, and chronic pain. Researchers are interested in obtaining more knowledge about how a syrinx forms in order to develop safer and more effective treatments for syringomyelia and related conditions. The goal of surgical treatment of syringomyelia is to eliminate the syrinx and prevent further spinal cord injury. In most patients, surgery results in the syrinx becoming smaller, but the effect of surgery on a patient s muscle strength, pain level, and overall function has not been studied over time. In addition, some individuals with syringomyelia or related conditions are not considered to be good candidates for surgery, and more information is needed about potential alternative treatments for these individuals. By recording more than 5 years of symptoms, muscle strength, general level of functioning, and magnetic resonance imaging (MRI) scan findings from individuals who receive standard treatment for syringomyelia, researchers can obtain more information about factors that influence its development, progression, and relief of symptoms. Objectives: - To conduct a 5-year natural history study of individuals with syringomyelia and related conditions. Eligibility: - Individuals at least 18 years of age who have syringomyelia or related conditions (including pre-syringomyelia or Chiari I malformation without syringomyelia). Design: This study requires 7 outpatient visits to the National Institutes of Health Clinical Center: an initial visit; a visit 3 months later; and visits 1, 2, 3, 4, and 5 years after the initial visit. An additional 10 days of inpatient treatment and testing will be required if surgery is needed during the study. The following tests will be performed during this study: Medical history and physical examination, which may also determine eligibility for surgery Detailed neurological history and examination Blood and urine samples MRI scans: Participants will have 2 scans at the initial evaluation, 2 scans at the 3-month visit, and 1 scan every year for the following 5 years. Additional neurological and imaging tests if needed, including a lumbar puncture to collect spinal fluid, a myelogram (imaging study) of the spinal fluid, and a computed tomography scan of the skull and spine. Participants who are surgical candidates will have additional tests along with the surgery, including diagnostic studies (electrocardiogram and chest X-ray) before surgery and an MRI scan 1 week after surgery.
Impact of Peripheral Afferent Input on Central Neuropathic Pain
Spinal Cord InjuriesSpinal Cord Diseases1 moreThe overarching aim of this study is to investigate the contribution of peripheral afferent input to spontaneous and evoked central neuropathic pain after a spinal cord lesion or disease.
Efficacy Assessment of the Cell Therapy Medicine NC1 in Patients With Post-traumatic Syringomyelia...
Post-Traumatic SyringomyeliaThe objective of the study is to determine if the cell therapy NC1 administered in the spinal cord is effective for the treatment of a post-traumatic syringomyelia. The post-traumatic syringomyelia is the development and progression of cyst filled with cerebrospinal fluid (CSF) within the spinal cord. The cell therapy NC1 consist on cells obtained from the bone marrow of the patient, that are cultured in vitro and administered in the spinal cord of the same patient.
Investigation of the Effects of Exercise on Patients With Chiari Malformation
Chiari Malformation Type IProprioceptive Disorders5 moreChiari Malformation (CM) is a posterior brain anomaly caused by the displacement of the brain stem and cerebellum into the cervical spinal canal. There are 8 types of Chiari malformations described today that vary according to the severity of the anomaly. In CM Type 1, cerebrospinal fluid (CSF) circulation deteriorated along with the foramen magnum and the cerebellar tonsillar decreased to at least 5 mm below the foramen magnum. Depending on this situation, headache, cerebellar findings, muscle strength, and sensory loss and so on. and adversely affect the daily life of the patient. When establishing an exercise program for the symptoms of CM type 1, it should be taken into consideration that somatosensory, visual, vestibular system and cerebellum are in close relationship with each other and balance and coordination result from this close relationship. When the literature is reviewed for exercise programs aimed at reducing instability in the cervical region, it is seen that 80% of the stability of the cervical spine originates from the muscular system and its importance in the treatment process is being investigated more and more day by day. However, no randomized controlled study was performed on these subjects. This study was planned to investigate the effects of two different exercise programs on pain, balance, coordination, proprioception, functional capacity, body posture, daily life activities and quality of life. The study was planned to involve at least 20 individuals with CM Type 1 who were not surgical indications in the 18-65 age range. The study was designed as a randomized, self-controlled study. Demographic data and characteristics of the subjects who meet the inclusion criteria and agree to participate in the study will be recorded at the beginning of the study. Patients will be evaluated in two different time periods. The first evaluations will be performed on the first day when patients are referred to rehabilitation by the physician. Following this assessment, all patients will be assigned numbers, which will be divided into two groups using a simple randomization method in the form of drawing lots. A total of 18 sessions 3 times a week for six weeks, the first group will receive symptomatic exercise program and the second group will focus on the deep muscles in the cervical region, especially the stabilizer, and a "Motor learning-based" exercise program that includes gradual control of these muscles. After 6 weeks, the first evaluations will be repeated in both groups.
Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia...
Arnold-Chiari MalformationType 13 moreThe purpose of this study is to determine whether a posterior fossa decompression or a posterior fossa decompression with duraplasty results in better patient outcomes with fewer complications and improved quality of life in those who have Chiari malformation type I and syringomyelia.
Clinical Trial of a Serious Game for Individuals With SCI/D
Spinal Cord InjurySpinal Cord Involvement7 moreThis study will evaluate the efficacy of a newly developed serious game, SCI HARD, to enhance self-management skills, self-reported health behaviors, and quality of life among adolescents and young adults with spinal cord injury and disease (SCI/D). SCI HARD was designed by the project PI, Dr. Meade, in collaboration with the UM3D (University of Michigan three dimensional) Lab between 2010 and 2013 with funding from a NIDRR (National Institute on Disability and Rehabilitation Research) Field Initiated Development Grant to assist persons with SCI develop and apply the necessary skills to keep their bodies healthy while managing the many aspects of SCI care. The study makes a unique contribution to rehabilitation by emphasizing the concepts of personal responsibility and control over one's health and life as a whole. By selecting an innovative approach for program implementation, we also attempt to address the high cost of care delivery and lack of health care access to underserved populations with SCI/D living across the United States (US). H1: SCI Hard participants will show greater improvements in problem solving skills, healthy attitudes about disability, and SCI Self-efficacy than will control group members; these improvements will be sustained over time within and between groups. H2: SCI Hard participants will endorse more positive health behaviors than control group members; these improvements will be sustained over time within and between groups. H3: SCI Hard participants will have higher levels of QOL than control group members; these differences will be sustained over time within and between groups. H4: Among SCI Hard participants, dosage of game play will be related to degree of change in self-management skills, health behaviors and QOL.
Development of a Patient-reported Outcome Measure for Chiari Malformation and Syringomyelia
SyringomyeliaChiari MalformationChiari malformation corresponds to the herniation of cerebellar tonsils into the foramen magnum resulting in obstruction of cerebrospinal fluid circulation, which may eventually lead to the formation of an intramedullary cavity called syringomyelia. Chiari and syringomyelia can be responsible of variable symptoms, based on which neurosurgeons might propose surgical treatment. Yet, there is no properly developped and validated patient reported outcome measure (PROM) to assess the clinical severity of Chiari malformation and/or syringomyelia. The lack of such evaluation tool is a major issue to determine the optimal therapeutic strategy and to achieve a standardized and reproducible follow-up.
Study and Surgical Treatment of Syringomyelia
SyringomyeliaThe goal of this study is to establish the mechanism(s) of progression of primarily spinal syringomyelia (PSS). Our preliminary study of syringomyelia emphasized syringomyelia associated with craniocervical junction abnormalities (CCJAS), such as the Chiari I malformation. This new protocol will expand the scope of our investigation to include primarily spinal syringomyelia (PSS), which is defined as syringomyelia not associated with craniocervical junction abnormalities (CCJAS). Etiologies of primarily spinal syringomyelia include 1) intradural scarring which is post-traumatic, post-inflammatory, or post-operative, 2) intradural-extramedullary masses such as arachnoid cysts or meningiomas, and 3) extramedullary-extradural spinal lesions such as cervical spondylosis or spinal deformity. Our hypothesis is the following: Primarily spinal syringomyelia (PSS), results from obstruction of cerebrospinal fluid (CSF) flow within the spinal subarachnoid space; this obstruction affects spinal CSF dynamics because the spinal subarachnoid space accepts the fluid that is displaced from the intracranial subarachnoid space as the brain expands during cardiac systole; in the case of primarily spinal syringomyelia (PSS), a subarachnoid block effectively shortens the spinal subarachnoid space, reducing CSF compliance and the capacity of the spinal theca to dampen the subarachnoid CSF pressure waves produced by the brain expansion during cardiac systole; the exaggerated spinal subarachnoid pressure waves occur with every heartbeat and act on the spinal cord above the block to drive CSF into the spinal cord and create a syrinx. Presyringomyelia, a recently described state of spinal cord edema associated with progressive myelopathy and obstruction in CSF flow, is a precursor stage to syringomyelia that is consistent with this hypothesis. Because of the importance of this condition to the pathophysiology of syringomyelia, we will also study patients with presyringomyelia in this protocol. After a syrinx is formed, the enlarged subarachnoid pressure waves compress the external surface of the spinal cord, propel the syrinx fluid, and promote syrinx progression. Many neurosurgeons at prominent academic centers routinely use syrinx shunts to treat primarily spinal syringomyelia. This study should provide data that a surgical procedure that opens the spinal subarachnoid space corrects the underlying pathophysiology and resolves the syrinx and that invasion of the spinal cord is unnecessary.
Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO Syndrome
CURRARINO SyndromeSacrococcygeal Teratoma1 moreContribute to support hypothesis of relationships between genes involve in oncogenesis and those involve in embryological development.