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SLIDESHOWS CCI/AAI Neurosurgical management of Hereditary Hypermobility Connective Tissue Disorders Cervical instabilities in the EDS population Recognition of Craniocervical Instability in complex Chiari patients Retethering in Ehlers-danlos syndrome Urological manifistations of Tethered cord syndrome Tethered cord syndrome in Ehlers-Danlos syndrome Tethered cord IJVS + IH

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CONNECTIVE TISSUE DISORDERS Connective tissue disorders are a group of diseases that affect the parts of the body that connect, support, or surround other tissues and organs. These tissues include collagen and elastin, which provide strength and flexibility to skin, joints, blood vessels, and internal organs .Connective tissue is found throughout the body and includes: Tendons (connect muscles to bones) Ligaments (connect bones to each other) Cartilage Fat tissue Bone Skin Blood vessel walls TYPES They can be inherited (genetic) or acquired (autoimmune). Inherited (Genetic) Disorders These are caused by mutations in genes responsible for collagen or other connective tissue proteins: Marfan syndrome Ehlers-Danlos syndrome (EDS) & Hypermobility spectrum disorder (HSD) Osteogenesis imperfecta Stickler syndrome Autoimmune (Acquired) Disorders The body’s immune system mistakenly attacks its own connective tissue: Systemic lupus erythematosus (SLE) Rheumatoid arthritis (RA) Scleroderma Sjogren's syndrome Mixed connective tissue disease (MCTD) EDS & HSD Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues, which provide support in skin, joints, blood vessels, and other organs and tissues. The defects in connective tissue result in symptoms that vary in severity and type depending on the specific form of EDS. Hypermobility Spectrum Disorder(HSD) is a connective tissue disorder that affects the joints, causing them to move beyond the normal range — also known as hypermobility — along with pain and other symptoms. What is Hypermobility Spectrum Disorder (HSD)? HSD refers to a group of conditions where people have joint hypermobility plus symptoms (like pain, instability, or fatigue), but don’t meet the full criteria for hypermobile Ehlers-Danlos syndrome (hEDS). This page will focus mainly on these two conditions, as they are the most closely linked to CCI & Co. TYPES OF EDS There are several types of EDS, with the most common being: Hypermobile EDS (hEDS): Characterized by joint hypermobility, frequent dislocations, and chronic pain. Classical EDS (cEDS): Features include highly elastic (stretchy) and fragile skin, as well as joint hypermobility. Vascular EDS (vEDS): The most severe type, affecting blood vessels and organs, making them prone to rupture. HEDS is the most common of all types, along with HSD. SYMPTOMS Joint Hypermobility: Unusually flexible joints that extend beyond the normal range of motion. Skin Elasticity: Soft, velvety skin that is highly elastic and fragile, prone to bruising and scarring. Chronic Pain: Due to joint and muscle issues. Frequent Dislocations and Subluxations: Partial dislocations of the joints. Easy Bruising: Blood vessels can be fragile, leading to frequent bruising. Slow Wound Healing: Scars that may stretch or become wide. Cardiovascular Issues: In some types, especially vEDS, there is a risk of blood vessel or organ rupture. Muscle Weakness: Generalized weakness and fatigue. Digestive Issues: Such as gastrointestinal reflux, constipation, or hernias. DIAGNOSIS Clinical Examination: Assessment of symptoms, including skin texture, joint mobility, and family history. Genetic Testing: To identify specific mutations associated with various types of EDS. There's no known gene for hEDS and HSD but reserch is ungoing Skin Biopsy: Examining a sample of skin tissue to study collagen structure and composition. TREATMENT While there is no cure for EDS & HSD, treatment focuses on managing symptoms and preventing complications: Physical Therapy: To strengthen muscles and stabilize joints. Pain Management: Medications, physical therapy, and sometimes surgery. Protective Measure: Using braces or supports to protect joints, and avoiding activities that put stress on the joints. Mobility aids: using aids to manage pain and mobility issues Wound Care: Special care for skin injuries to promote healing and minimize scarring. Regular Monitoring: Particularly for types that involve cardiovascular risks, such as vEDS, regular check-ups with a cardiologist may be necessary. Surgical Interventions: May be required for severe joint issues or vascular complications, though surgeries can be more complicated due to tissue fragility. PROGNOSIS The prognosis for EDS & HSD varies widely depending on the type and severity of the condition. Many individuals with EDS live a normal lifespan with proper management of symptoms. However, those with vascular EDS (vEDS) may face serious, life-threatening complications and require more intensive monitoring and care. Regular follow-up with healthcare providers and a multidisciplinary approach to care can help manage the condition effectively. For more info, please check out our resources here SOURCES https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125 https://www.ehlers-danlos.org/what-is-eds/ https://www.ehlers-danlos.org/what-is-eds/information-on-eds/hypermobile-eds-and-hypermobility-spectrum-disorders/ https://www.ncbi.nlm.nih.gov/books/NBK549814/ https://my.clevelandclinic.org/health/diseases/17813-ehlers-danlos-syndrome

CHIARI MALFORMATION Chiari malformation is a condition where part of the brain, specifically the cerebellum, is located lower than usual and extends into the spinal canal. This abnormal positioning can cause various neurological issues because it puts pressure on the brain and spinal cord. SYMPTOM S - Headaches : Often severe and worsened by coughing, sneezing, or straining. - Neck Pain : Particularly at the base of the skull. - Balance Problems : Difficulty walking and coordinating movements. - Muscle Weakness : Especially in the arms and legs. - Numbness or Tingling: In the hands and feet. - Swallowing Difficulties : Sometimes accompanied by gagging or choking. - Dizziness: Vertigo or a feeling of being off-balance. - Vision Problems: Blurred or double vision. MRI of human brain with type-1 Arnold-Chiari malformation and herniated cerebellum " by Basket of Puppies is licensed under CC BY-SA 3.0 . TYPES Types of Chiari Malformations: Type I - Description : The cerebellar tonsils (the lower part of the cerebellum) extend into the foramen magnum, the opening at the base of the skull. - Symptoms : Often asymptomatic in childhood, but can cause headaches, neck pain, balance problems, and coordination difficulties in teens or adults. Type II - Description : More severe than Type I. Involves more significant displacement of brain tissue and is often associated with spina bifida (myelomeningocele), where part of the spinal cord and its surrounding structures are exposed through a gap in the backbone. - Symptoms : Present at birth, can cause severe neurological issues such as difficulty swallowing, arm weakness, and breathing problems. Type III - Description : The cerebellum and brainstem extend into the foramen magnum and into the spinal canal. This is very rare and severe. - Symptoms : Causes serious neurological deficits, such as severe developmental delays and physical disabilities. Often detected at birth. Type IV - Description : The cerebellum is underdeveloped or incompletely formed. This is the rarest and most severe form. - Symptoms : Often incompatible with life due to significant brain abnormalities. DIAGNOSIS Chiari malformation is usually diagnosed through imaging techniques such as MRI (Magnetic Resonance Imaging), which provides detailed images of the brain and spinal cord. In some cases an upright MRI might be necessary, in cases where the herniation is only visible/worsens when upright. TREATMENT - Monitoring : If symptoms are mild, regular monitoring may be sufficient. - Medication : To manage pain and symptoms like headaches. - Surgery : The most common treatment for more severe cases involves surgery to relieve pressure on the brain and spinal cord. This can include a procedure called decompression surgery, where part of the skull is removed to create more space for the brain. It's important to know that Chiari decompression surgery can worsen any instability (CCI/AAI) there might be, ruling this out first can help you avoid complications. Chiari malformation is a complex condition, and treatment plans are tailored to the individual's specific symptoms and severity of the malformation. POTENTIAL COMPLICATIONS Potential Complications: - Meningitis: Infection due to bacteria entering the brain or spinal cord through the tear. - Chronic Headaches : Persistent headaches due to ongoing CSF leakage. - Neurological Symptoms : If the leak affects brain or spinal cord function. - Instability : Instability of the C1-C2 due to structural impairment after a piece of skull is removed PROGNOSIS The prognosis of Chiari malformation (CM) varies significantly depending on the type and severity of the condition, as well as the presence of related complications. Many individuals with CM-I may not experience symptoms and may live normal lives without requiring treatment. Some people may have mild symptoms, such as headaches, neck pain, dizziness, or balance issues, but these can often be managed with medication or lifestyle changes. With appropriate treatment, many people with CM-I can lead a relatively normal life. However, if left untreated, progressive neurological issues can develop. SOURCES Mayo Clinic – Chiari Malformation https://www.ninds.nih.gov/health-information/disorders/chiari-malformations https://bobbyjonescsf.org/chiari/ https://www.aans.org/patients/conditions-treatments/chiari-malformation/

ABOUT This page is made by a patient, for patients. When i was diagnosed i scoured the internet for information about CCI and it's comorbidities. Unfortunately i didn't find much, and what i found was either anecdotal or hard to understand. I was missing an information hub that was backed by evidence and reputable sources, yet easy to understand despite the cognitive difficulties my conditions gave me. So once i started to get better, i decided to create one myself and hopefully give back to a community who's helped me survive the journey. That's what brought us to this place. I hope this page can be everything i needed, to someone else.

TYPE OF SCANS AND TESTS SUPINE MRI An MRI is a scan that uses strong magnets and radio waves to create detailed pictures of the inside of your body — especially soft tissues like the brain, spine, muscles, and organs. It does not use X-rays or radiation, unlike a CT scan. A supine MRI is the most common type, supine means laying down. UPRIGHT MRI (uMRI) An Upright MRI is a type of MRI scan where you are sitting or standing instead of lying down. It takes images of your body while it's under natural gravity and posture — which can reveal problems that don’t show up when lying flat. Often it's done as a dynamic scan with flexion-extension positioning. Upright MRI is the preferred imaging for diagnosing CCI. Unfortunately upright MRI machines are hard to come by, often requiring you to travel to find one. You can find the locatations of uMRIs in europe here . CT SCAN A CT scan(Computed Tomography) is a scan that uses X-rays and a computer to create detailed pictures of the inside of your body. It’s like a more advanced X-ray that shows cross-section images (like slices of your body), allowing doctors to see bones, organs, blood vessels, and soft tissues more clearly. ROTATIONAL CT SCAN A Rotational CT scan is a special kind of CT scan (Computed Tomography) where imaging is done while the head or neck is rotated to the left and right, not just in a neutral (still) position. Instead of just one static picture, it gives multiple 3D images of the bones at different head positions (usually at full left rotation, full right rotation, and neutral). This is the preferred way to diagnose AAI, also called rotational instability. CONE BEAM CT (CBCT) A CBCT scan is a special type of CT scan that uses a cone-shaped X-ray beam to create 3D images, mostly of the head, neck, teeth, jaw, and sinuses. It gives high-detail images of bones and teeth with lower radiation than a regular CT. Recently this scan has been used to create dynamic (flexion/extension) imaging, as many don't have access to an upright MRI. This scan is useful in diagnosing both CCI and AAI. MR/CT VENOGRAM A venogram is a imaging test that shows how well your veins are working. It uses contrast dye to make the veins visible on scans, allowing doctors to see blockages, narrowing, or abnormal blood flow. This test is especially useful for detecting problems in deep veins that can't be seen with ultrasound alone.It can be done both as an MRI and as a CT. It's one of the scans used to diagnose jugular stenosis and transverse sinus stenosis. MR/CT ANGIOGRAM An angiogram is a imaging test used to visualize blood vessels — especially arteries — to detect problems like narrowing, blockage, bulging (aneurysm), or abnormal connections. The word "angio" means blood vessel, and "gram" means picture — so an angiogram is literally a picture of blood vessels. It can be done as either CT with contrast or MRI with or without contrast. It can be invasive, involving a catheter (thin tube) is inserted into an artery (usually in the groin, wrist, or neck) or non invasive. It's one of the scans used to diagnose jugular stenosis and transverse sinus stenosis. FLEXION-EXTENSION X-RAY A flexion-extension X-ray is a special type of X-ray imaging used to take pictures of your spine while it’s bent forward (flexion) and bent backward (extension). This is often the first scan a doctor orders when instability is suspected, however it is rarely enough to diagnose ligamentous laxity related instability such as CCI. DIGITAL MOTION X-RAY (DMX) A Digital Motion X-Ray (DMX) is a special type of real-time X-ray that shows how your bones and joints move while you're actually moving — like turning your head or bending your neck. It’s like a video X-ray, allowing doctors to watch your joints in motion to detect problems that don’t show up when you're still. It's used by some practitioners to diagnose CCI, AAI and subaxial (below c2) instability. LUMBAR PUNCTURE (LP) A lumbar puncture (LP) is a procedure that measures cerebrospinal fluid (CSF) pressure in the lower back — which indirectly reflects the pressure inside the skull.After cleaning the skin and numbing the area, a thin, hollow needle is gently inserted between two vertebrae in the lower lumbar spine (usually between L3–L4 or L4–L5). The needle passes into the subarachnoid space, where CSF flows around the spinal cord. Once the needle is in the correct space, it’s attached to a manometer — a small, clear, vertical tube that measures pressure. ICP BOLT TEST An ICP bolt (Intracranial Pressure bolt) is a small, screw-like device used to measure pressure inside the skull (intracranial pressure) directly and continuously. The ICP bolt is a type of invasive pressure monitor. It’s called a “bolt” because it’s a hollow screw that anchors a tiny pressure sensor into the skull. INVASIVE CERVICAL TRACTION (ICT) Invasive cervical traction is a medical procedure where a pulling force is applied to the cervical spine (neck) using surgically placed pins or screws in the skull or spine to help realign, decompress, or stabilize the neck bones. Unlike regular traction (which uses external devices like a neck harness), invasive traction involves inserting hardware into bone to apply more precise or stronger traction. Some doctors use ICT to help determine if a fusion surgery would help alleviate symptoms HALO VEST TRIAL A Halo Vest Trial is a temporary, non-surgical test used to see whether stabilizing the head and neck with a rigid device (a halo vest) improves a patient’s symptoms — especially in cases of Craniocervical Instability (CCI) or Atlantoaxial Instability (AAI).

NeuroSpine Connections is a patient run resource focusing on craniocervical instability and comorbidities NeuroSpine Connections Join our facebook group and become part of the community Facebook BROWSE CONDITIONS CCI + AAI Chiari malformation Tethered cord CSF leak Intracranial hypertension AND MORE Help keep this site running! This site depends on donation to stay open. Can you spare $1 to help us, help patients? Our Story Read More Get to Know Us This site was created by a patient, for patients, with a hope of providing an information hub with reputable sources yet still easy to understand, despite brainfog.

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CERVICOMEDULLARY SYNDROME Cervicomedullary syndrome is a proposed clinical syndrome that results from damage or compression at the junction between the cervical spinal cord and the brainstem, specifically the cervicomedullary junction. This area is where the spinal cord transitions into the brainstem, and it's crucial for controlling various motor and sensory functions, as well as autonomic processes like breathing and heart rate. SYMPTOM S Symptoms depend on the severity and location of the injury or compression but generally include a combination of the following: Motor Symptoms: Weakness or paralysis (particularly in the arms, legs, or face) Coordination problems (ataxia), difficulty with walking or balance Muscle spasms or spasticity Sensory Symptoms: Loss of sensation (numbness, tingling) in the arms, legs, or trunk Pain in the neck, upper back, or limbs Autonomic Dysfunction: Respiratory issues: Difficulty breathing or irregular breathing patterns (since the brainstem controls respiratory function) Cardiovascular problems/Dysautonomia: Irregular heart rate, blood pressure changes, temperature dysregulation, bladder and bowel issues Cranial Nerve Dysfunction: Difficulty swallowing (dysphagia) Speech problems (dysarthria) Facial weakness or drooping (due to cranial nerve involvement) Visual disturbances (e.g., double vision) Upper Motor Neuron Signs: Hyperreflexia (exaggerated reflexes) Babinski sign (an abnormal response to stimulation of the foot, indicating upper motor neuron damage) Spasticity (Increased muscle tone) Clonus (Rhythmic muscle contractions) CAUSES Cervicomedullary syndrome can be caused by various conditions that affect the cervical spinal cord and brainstem junction, including: Trauma : Spinal cord injury from accidents, whiplash, or falls can damage the cervicomedullary junction. Tumors : Growths (e.g., gliomas, metastases) in the cervical spine or brainstem can compress this region. Cervical Spondylosis : Degeneration of the cervical spine, such as disc herniation or vertebral bone spurs, can lead to compression of the spinal cord at the cervicomedullary junction. Chiari Malformation : A structural abnormality where brain tissue extends into the spinal canal, potentially compressing the brainstem and cervical spinal cord. Infections or Inflammatory Diseases : Conditions like abscesses, encephalitis, or transverse myelitis can cause inflammation and swelling in the region. Craniocervical and atlantoaxial instability : Instability of the craniocervical junction can cause compression or stretching of the brainstem DIAGNOSIS Diagnosis typically involves: MRI (Magnetic Resonance Imaging) : This is the primary imaging tool to visualize the cervical spinal cord, brainstem, and surrounding structures, helping to identify compression or damage. Both supine and upright can be relevant CT Scan: May be used to detect fractures or bony abnormalities in the cervical spine. Neurological Examination: To assess motor and sensory function, reflexes, and coordination. TREATMENT Treatment depends on the underlying cause and the severity of the condition. Some approaches may include: Surgical Intervention: Decompression surgery: To relieve pressure from tumors, herniated discs, or bone spurs. Spinal fusion: In cases of instability or degenerative changes in the cervical spine. Tumor removal: In cases of malignancy or benign growths causing compression. Medications: Steroids: To reduce inflammation and swelling, particularly in cases of trauma or inflammatory conditions. Pain relief: For managing neck pain, radiculopathy, or other discomforts. Muscle relaxants: To manage spasticity or muscle stiffness. Can be contraindicated for cases of instability Rehabilitation: Physical therapy: To help restore strength, mobility, and coordination. PROGNOSIS The prognosis for cervicomedullary syndrome depends largely on the underlying cause, the extent of damage, and how quickly treatment is initiated. Early intervention and appropriate treatment can improve outcomes. SOURCES https://pmc.ncbi.nlm.nih.gov/articles/PMC6821667/ https://pubmed.ncbi.nlm.nih.gov/28220607/ https://www.hilarispublisher.com/open-access/craniocervical-instability-in-patients-with-hypermobility-connective-disorders-2165-7939-1000299.pdf

UPRIGHT MRI LOCATIONS The UK: Upright MRI UK The European Scanning Centre Medserena upright MRI center The rest of Europe: Premier Healthcare Germany If you're aware of any other clinics within europe, that offers upright MRIs, please contact us here , so it can be added to the list! The US: Upright MRI - Colorado Upright MRI - Illinois and Indiana Open upright MRI - Missouri American Dynamic Imaging - San Antonio, Texas MUSC - Charleston South Carolina Rayus radiology - multiple locations Vision Upright MRI - San Jose, California Upright MRI - New mexico East Bay Upright MRI - California Washington Open MRI - Maryland Canada: Welcome back - British Columbia, Canada If you're aware of any other clinics within the US or Canada, that offers upright MRIs, please contact us here , so it can be added to the list!