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RESOURCES GENERAL MEchanical Basis BRAIN FOUNDATION AU CCI MEpedia DR.GILETE - WHAT IS CCI IIH/PC INTRACRANIAL HYPERTENSION RESEARCH FOUNDATION IIH UK CSF LEAK CSF LEAK ASSOCIATION SPINAL CSF LEAK FOUNDATION CHIARI CHIARI BRIDGES CONQUER CHIARI CHIARI AND SYRINGOMYELIA FOUNDATION EDS & HSD THE EDS/HSD TOOLKIT THE EHLERS-DANLOS SOCIETY MIND BODY EDS EHLERS DANLOS UK HYPERMOBILITY SYNDROMES ASSOCIATION

CEREBROSPINAL FLUID LEAK A cerebrospinal fluid (CSF) leak occurs when the cerebrospinal fluid, which cushions and protects the brain and spinal cord, escapes through a hole or tear in the dura mater, the tough outer membrane surrounding the brain and spinal cord. This fluid can leak out through the nose, ears, or spinal area, depending on where the tear is located. A CSF leak can cause the pressure within the spinal canal to drop, leading to an array of symptoms SYMPTOM S - Headaches: Often described as positional headaches, which worsen when standing or sitting up and improve when lying down. Often accompanied by neck stiffness and pain - Clear Fluid Drainage : Clear, watery fluid may drain from the nose (rhinorrhea) or ears (otorrhea). - Nausea and Vomiting : Associated with headaches and intracranial pressure changes. - Hearing disturbances : Hearing loss and ringing in ears (tinnitus) - Visual Disturbances : Blurred vision, double vision and sensitivity to light (photophobia) - Imbalance : Dizziness and a sense of imbalance might occur CAUSES - Trauma : Head or spinal injuries can cause tears in the dura mater. - Surgery : Neurosurgery or spinal surgery can sometimes inadvertently create a tear. - Spontaneous Leaks : These can occur without any obvious cause, often due to weak spots in the dura mater. - Increased Intracranial Pressure : Conditions that increase pressure inside the skull can sometimes lead to CSF leaks. DIAGNOSIS - Clinical Examination : Doctors look for clear fluid drainage and other signs of CSF leak. - Imaging Studies: MRI, CT or Myelogaphy scans can help identify the site of the leak. - CSF Tests: Fluid samples can be tested for beta-2 transferrin, a protein unique to CSF. TREATMENT 1. Conservative Measures: - Bed Rest: Encouraging the patient to lie flat to reduce pressure on the dura and allow it to heal. - Hydration: Increasing fluid intake to maintain CSF pressure. - Caffeine: Sometimes used to help reduce headaches. - Avoid Straining : Patients are advised to avoid activities that increase intracranial pressure, like heavy lifting or straining. 2. Medical Interventions: - Epidural Blood Patch : A procedure where a small amount of the patient’s blood is injected into the epidural space near the leak to form a clot and seal the tear. - Fibrin sealant: A special sealant made from human plasma is injected into the spinal canal to seal the leak. - Surgery: In cases where conservative measures fail, surgical repair may be necessary to close the tear in the dura mater. 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. PROGNOSIS A CSF leak can significantly impact quality of life, but with proper diagnosis and treatment, many patients recover fully. SOURCES Mayo Clinic – CSF Leak https://www.hopkinsmedicine.org/health/conditions-and-diseases/cerebrospinal-fluid-csf-leak https://www.ncbi.nlm.nih.gov/books/NBK538157/ https://my.clevelandclinic.org/health/diseases/16854-cerebrospinal-fluid-csf-leak

SUSPECTED DIAGNOSIS? CCI & AAI WHERE TO START Knowing where to start when you suspect you, or a loved one, has CCI/AAI can be challenging due to the lack of knowledge of the condition in mainstream medicine. Many have been told by their doctors that nothing is wrong with their neck after a standard MRI or X-ray, although this is rarely enough to make a diagnosis. The first step you should take is finding a practitioner. You can find a list of well established CCI knowledgeable practitioners here . When you have chosen one, reach out to them to ask what imaging they prefer, this varies. Most practitioners offer this imaging as a service, or is able to refer you to a place that does. You can also find our list of upright MRI machines here . Once you have this info, you should consider what sort of consultation you'd like. Some practitioners offer scan reviews, some offer telehealth/remote consultations, and all offer in person consultation. While seeing a doctor in person is always recommended, it's not always accessible due to finances or health limitation. In that situation you might choose to get the relevant scans at the facility closest to you, and get a remote consult or simply a scan review. Keep in mind that most practitioners won't make an official diagnosis or recommendations without an in-person consult, however they can give you an idea of what might be going on, which can be helpful in letting you decide the next step. DIAGNOSED - WHAT'S NEXT Once you're diagnosed or has a suspected diagnosis it's time to decide what management route you want to go. There are both traditional and more alternative options available. You can read a short description of the treatment options here . If your case is severe, especially if there's signs of neurological/brainstem involvement, you might be recommended surgery, while in mild to moderate cases, conservative management is recommended.

GLOSSARY CONDITION

TETHERED CORD SYNDROME Tethered cord syndrome is a neurological disorder caused by a tissue attachment that limits the movement of the spinal cord within the spinal column. This tethering causes the spinal cord to be stretched and damaged as the body grows and moves. SYMPTOM S - Back Pain : Often in the lower back, increasing with activity. - Leg Weakness or Numbness : Affects walking and coordination. - Foot Abnormalities : Such as high arches or curled toes. - Bladder and Bowel Problems : Incontinence or difficulty with urination and bowel movements. - Scoliosis : Abnormal curvature of the spine, which can be associated with tethered cord. - Skin Abnormalities : Such as a fatty lump, dimple, or patch of hair on the lower back. - Muscle contractions : such as clonus CAUSES Congenital (present at birth): - Spina Bifida : A birth defect where the spine and spinal cord don't form properly, often associated with tethered cord. - Lipoma : Fatty tissue that can attach to the spinal cord. - Thickened Filum Terminale : The end part of the spinal cord may be thicker than normal and cause tethering. - Diastematomyelia : A condition where the spinal cord is split into two parts, often causing tethering. Acquired: - Surgery : Scar tissue from previous spinal surgeries can cause tethering. - Injury : Trauma to the spine can result in scar tissue that leads to tethering. DIAGNOSIS - Clinical Examination : Doctors look for physical signs and symptoms. - Imaging Studies : MRI is the most common imaging test used to diagnose tethered cord syndrome, providing detailed images of the spinal cord and surrounding tissues. - Urodynamic Tests : To assess bladder function if urinary symptoms are present. TREATMENT Conservative Management: - Monitoring and physical therapy: for mild cases without severe symptoms. Surgical Intervention: - Detethering Surgery: The primary treatment, which involves surgically releasing the spinal cord from the attached tissue. This aims to restore the normal movement of the spinal cord and prevent further damage. - Postoperative Care : Includes physical therapy and regular follow-up to monitor recovery and ensure that the spinal cord remains free. POTENTIAL COMPLICATIONS - Neurological Damage : If untreated, the ongoing tension can cause permanent damage to the spinal cord. - Re-tethering : In some cases, the spinal cord may tether again after surgery, requiring further intervention. - Infection and Bleeding : Risks associated with any surgical procedure. PROGNOSIS Early diagnosis and treatment are crucial for preventing long-term complications. Many patients experience significant relief of symptoms and improved quality of life after surgery. Regular follow-up is important to monitor for potential recurrence of tethering and manage any ongoing symptoms. OCCULT TETHERED CORD Occult tethered cord syndrome (OTCS) is a condition where the spinal cord is abnormally stretched or anchored, but without the obvious, visible signs seen in classic tethered cord syndrome. The term "occult" means hidden, indicating that the tethering is not easily detected through standard imaging tests or physical examination. OTCS seems to be more prevalent in patients with CCI or ehlers-danlos syndrome, however more research is needed. CAUSES - Congenital Abnormalities : Even though the condition is hidden, it may still be caused by subtle congenital anomalies. - Trauma or Surgery : Scar tissue from previous spinal surgeries or injuries can cause occult tethering. - Degenerative Changes : Age-related changes in the spine that may not be immediately apparent. SYMPTOMS The symptoms of OTCS are similar to those of classic tethered cord syndrome but may be more subtle and harder to diagnose. DIAGNOSIS It is often a clinical diagnosis based on symptoms and physical findings, however in some cases prone lumbar MRI scans are used to identify signs of an occult tether. This is still a fairly new concept and not widely used. SOURCES Tethered Spinal Cord Syndrome – Causes, Diagnosis and Treatments Tethered Spinal Cord Syndrome | National Institute of Neurological Disorders and Stroke Tethered Cord Syndrome - Symptoms, Causes, Treatment | NORD Tethered cord syndrome | Radiology Reference Article | Radiopaedia.org Occult tethered cord syndrome: a rare, treatable condition https://thejns.org/spine/view/journals/j-neurosurg-spine/40/6/article-p758.xml?tab_body=fulltext Full article: Effect of untethering on occult tethered cord syndrome: a systematic review Diseased Filum Terminale as a Cause of Tethered Cord Syndrome in Ehlers-Danlos Syndrome: Histopathology, Biomechanics, Clinical Presentation, and Outcome of Filum Excision - ScienceDirect

SPECIALISTS Below is a list of specialists known to be knowledgeable of cranio cervical instability and related conditions. We do not endorse or recommend anyone. CCI & AAI SPECIALISTS THE US Dr. Fraser Henderson Location: Silver springs, MD Speciality: Neurosurgery Website: https://www.metropolitanneurosurgery.org/dr-fraser-henderson/ Contact info: Phone: (301) 557-9049 or via website Does online evaluations/consults: No Also treats/is knowledgeable on: Chiari malformation, occult tethered cord Other info: Dr. Robert Rosenbaum Location: Silver springs, MD Speciality: Neurosurgery Website: https://www.metropolitanneurosurgery.org/dr-robert-rosenbaum/ Contact info: Phone: (301) 557-9049 or via website Does online evaluations/consults: No Also treats/is knowledgeable on: Other info : Dr. Paolo Bolognese Location: New york Speciality: Neurosurgery Website: http://www.chiarinsc.com/dr.bolognese.php Contact info: Phone (516) 321-2586 and pbolognese@chiarinsc.com Does online evaluations/consults: Yes Also treats/is knowledgeable on: Chiari malformation Other info: Dr. Ibrahim Hussain Location: New york Speciality:Neurosurgery Website: https://neurosurgery.weillcornell.org/faculty/ibrahim-hussain-md Contact info: (888) 922-2257 Does online evaluations/consults: Also treats/is knowledgeable on: CSF leak Other info: Works with Dr. Greenfield Dr . Sunil Patel Location: Charleston, SC Speciality: Neurosurgery Website: https://muschealth.org/MUSCApps/providerdirectory/Patel-Sunil Contact info: Does online evaluations/consults: No Also treats/is knowledgeable on: Other info: Dr . Faheem Sandhu Location: Washington, DC Speciality: Neurosurgery Website: https://www.medstarhealth.org/doctor/dr-faheem-akram-sandhu-md/ Contact info: Does online evaluations/consults: No Also treats/is knowledgeable on: Other info: Dr. Anthony Capocelli Jr Location : Little Rock, AR Speciality: Neurosurgery Website: https://www.orthoarkansas.com/anthony-capocelli-md Contact info: Phone 501-500-3500 or via website Does online evaluations/consults: Also treats/is knowledgeable on: Other info: Dr. Arthur Jenkins Location: New York, NY Speciality: Neurosurgery Website: https://jenkinsneurospine.com/ Contact info: Phone (646) 499-0488 or via website Does online evaluations/consults: Also treats/is knowledgeable on: Other info: Dr. Charles Sansur Location: Maryland Speciality: Neurosurgery Website: https://www.umms.org/find-a-doctor/profiles/dr-charles-a-sansur-md--mhsc-1568679652 Contact info: via website Does online evaluations/consults: Also treats/is knowledgeable on: Other info: Dr. Neill Wright Location: St. Louis, Missouri Speciality: Neurosurgery Website: https://www.neillwrightmd.com/ Contact info: (314) 806-1770 or wright@nwrightmd.com Does online evaluations/consults: Also treats/is knowledgeable on: Other info: Dr. Justin Virojanapa Location: Cincinnati, Ohio Speciality: Neurosurgery Website: https://www.uchealth.com/en/provider-profiles/virojanapa-justin-1598063612 Contact info: (513) 475-8000 Does online evaluations/consults: Also treats/is knowledgeable on: Other info: Dr. Deb A. Bhowmick Location: North carolina Speciality: Neurosurgery Website: https://www.dukehealth.org/find-doctors-physicians/deb-bhowmick-md Contact info: (919) 620-5168 Does online evaluations/consults: Also treats/is knowledgeable on: Other info: Dr. Colin C. Buchanan Location: Colorado Speciality: Neurosurgery Website: https://www.cbsi.md/buchanan Contact info: See website Does online evaluations/consults: Also treats/is knowledgeable on: Chiari Other info: AUSTRALIA Dr. Prashanth Rao Location: Sydney, Australia Speciality: Neurosurgery Website: https://brainandspinesurgery.com.au/ Contact info: Phone: 02 90527567 or info@brainandspinesurgery.com.au Does online evaluations/consults: Unknown Also treats/is knowledgeable on: Other info: EUROPE Dr. Vinc en Ç Gilete Location: Barcelona, Spain Speciality: Neurosurgery Website: https://drgilete.com/ Contact info: +34 93 220 28 09 or info@drgilete.com Does online evaluations/consults : Yes Also treats/is knowledgeable on: Chiari malformation, venous stenosis, (occult) tethered cord, Other info: Dr. Bartolomé Oliver Location: Barcelona, Spain Speciality: Neurosurgery Website: https://chiarisurgery.com/ Contact info: info@chiarisurgery.com or +34 698 991 982 Does online evaluations/consults : Yes Also treats/is knowledgeable on: Chiari malformation, venous stenosis, (occult) tethered cord, intracranial hypertension Other info: ASIA Dr. Atul Goel Location: Mumbai, India Speciality: Neurosurgery Website: https://www.bombayhospital.com/dr-atul-goel.php Contact info: See website Does online evaluations/consults : No Also treats/is knowledgeable on: Other info: Only does C1-C2 fusion Other specialists Dr. Jeffrey Greenfield Location: New york Speciality: Pediatric neurosurgery Website: https://weillcornellbrainandspine.org/faculty/jeffrey-p-greenfield-md-phd Contact info: See website Does online evaluations/consults: No Also treats/is knowledgeable on: Chiari malformation Other info: Works with Dr. Hussain Dr. Petra Klinge Location: Rhode island Speciality: Neurosurgery Website: https://brownneurosurgery.com/our-team/petra-klinge-md-phd/ Contact info: (401) 793-9166 Does online evaluations/consults: No Also treats/is knowledgeable on: Chiari malformation, (occult) Tethered cord Other info:

Toppen af siden CCI/AAI Tethered cord IJVS + IH RESEARCH ARTICLES Neurological and spinal manifestations of the Ehlers–Danlos syndromes CCI/AAI Cranio-cervical Instability in Patients with Hypermobility Connective Disorders Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization Occipito-cervical fusion in patients with occipito-atlanto-axial joints instability: A preliminary report of outcome and examination of influence factors for outcome Occipito-atlanto-axial Hypermobility : Clinical Features and Dynamic Analysis of Cranial Settling and Posterior Gliding of Occipital Condyle. Part 2 : Findings in Patients with Post-traumatic Condition Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue CSF Craniocervical Instability Colloquium 2013 Occipito-atlanto-axial Hypermobility : Clinical Features and Dynamic Analysis of Cranial Settling and Posterior Gliding of Occipital Condyle. Part 1 : Findings in Patients with Hereditary Disorders of Connective Tissue and Ehlers-Danlos Syndrome Surgical Outcomes and Complications after Occipito-Cervical Fusion Using the Screw-Rod System in Craniocervical Instability Diagnosis of Atlantoaxial Instability Requires Clinical Suspicion to Drive the Radiological Investigation Utility of the clivo-axial angle in assessing brainstem deformity: pilot study and literature review Tethered cord Tethered Cord Syndrome : Preliminary Report of Clinical Features and Morphometric Analysis on Association of Chiari Malformation Type The Tethered Cord Syndrome and Its Occult Form Tethered cord syndrome in adults Variation in Outcome in Tethered Cord Syndrome Detethering of a congenital tethered cord in adult patients: An outcome analysis IJVS + IH Manifestations of Pediatric Intracranial Hypertension From the Intracranial Hypertension Registry MRI features of idiopathic intracranial hypertension Feasibility and usefulness of ultrasonography in idiopathic intracranial hypertension or secondary intracranial hypertension Headache in Idiopathic Intracranial Hypertension: Findings From the Idiopathic Intracranial Hypertension Treatment Trial Idiopathic Intracranial Hypertension: A Venous Disease? Understanding jugular venous outflow disturbance Internal jugular vein stenosis - the neurosurgery dictionary Styloidogenic Jugular Venous Compression Syndrome: Diagnosis and Treatment: Case Report Cerebral venous etiology of intracranial hypertension and differentiation from idiopathic intracranial hypertension Intracranial hypertension and cranial sinus stenosis

JUGULAR VEIN STENOSIS Jugular vein compression is when one or both internal jugular veins (IJVs) — the major veins that drain blood from your brain — become partially or fully blocked due to external pressure or narrowing. This can lead to reduced blood flow out of the brain, causing symptoms related to intracranial pressure, drainage issues, or brainstem congestion. ANATOMY AND FUNCTION You have two internal jugular veins — one on each side of your neck — and they are the main drainage pathways for venous (used) blood from the brain back to the heart. If one or both veins are compressed: Blood may back up in the head Brain pressure may increase Collateral veins may form but may not drain efficiently SYMPTOM S The symptoms of jugular vein compression are typically related to impaired venous drainage from the brain, which can cause increased intracranial pressure and reduced blood flow. Symptoms may include: Headache : A common symptom due to increased intracranial pressure. Headaches may be persistent, throbbing, and worse in the morning or when changing position (such as lying down) Tinnitus: Ringing or pulsatile sounds in the ears, often caused by increased pressure in the venous system or impaired venous drainage from the brain Visual Impairment : Blurred vision, transient visual loss, or even blind spots may occur due to pressure on the optic nerves or from papilledema. Neurological Symptoms: Symptoms such as dizziness, nausea, or vomiting due to increased intracranial pressure. In severe cases, neurological deficits like motor weakness, seizures, or cognitive changes may develop. Swelling of the Neck : In some cases, neck or facial swelling may occur due to impaired venous drainage. Cognitive Impairment : Patients with jugular vein stenosis may experience difficulty concentrating, memory problems, or a general feeling of "brain fog." Seizures: In severe cases of venous congestion or increased intracranial pressure, seizures may occur due to reduced cerebral blood flow. CAUSES Bone compression : The C1 (atlas) or styloid process can press on the vein Vascular compression: Nearby arteries or abnormal veins may push against the jugular Scar tissue or fibrosis: From past surgeries or infections Tumors or masses: Can press on the vein externally Neck alignment/instability : May narrow the vein when the head is turned Often occurs in people with: Ehlers-Danlos Syndrome (EDS) Craniocervical Instability (CCI) and Atlantoaxial Instability(AAI) Eagle Syndrome (elongated styloid bone compresses jugular vein) DIAGNOSIS Diagnosing transverse sinus stenosis typically involves a combination of clinical examination, imaging, and sometimes diagnostic procedures: Imaging : Magnetic Resonance Imaging (MRI) with Magnetic Resonance Venography (MRV): This is the gold standard for diagnosing jugular vein stenosis. MRV allows detailed imaging of the venous structures and can identify areas of narrowing or occlusion in the jugular vein. CT Venography (CTV): This test can also be used to visualize jugular veins, particularly if MRV is not available or contraindicated. Conventional Venography: This invasive test, which involves injecting contrast into the venous system and taking X-ray images, is rarely used today but may be helpful in certain situations. Lumbar Puncture (Spinal Tap) : A lumbar puncture may be performed to measure opening pressure in the cerebrospinal fluid (CSF). Elevated opening pressure can indicate increased intracranial pressure, which might be secondary to impaired venous drainage from the brain. Fundoscopic Eye Exam: The ophthalmologist may observe papilledema (swelling of the optic disc), which is indicative of increased intracranial pressure and can be seen in patients with transverse sinus stenosis. Ultrasound : In certain cases, Doppler ultrasound of the neck veins may help assess venous flow and detect stenosis or clot formation. TREATMENT The treatment for jugular vein stenosis depends on the severity of the condition, the underlying cause, and the presence of complications such as increased intracranial pressure or venous thrombosis. Common treatments include: Anticoagulation: If the stenosis is due to thrombosis, anticoagulant therapy (e.g., heparin or warfarin) is typically used to prevent further clotting and manage the risk of embolism. Management of Idiopathic Intracranial Hypertension (IIH): If transverse sinus stenosis is associated with IIH (pseudotumor cerebri), treatment may include: Acetazolamide (a carbonic anhydrase inhibitor) to reduce cerebrospinal fluid (CSF) production and lower intracranial pressure. Weight loss for patients who are overweight or obese, as it has been shown to reduce intracranial pressure in IIH. Diuretics like furosemide to reduce fluid buildup. In severe cases, optic nerve sheath fenestration (a surgical procedure to relieve pressure on the optic nerve) or a lumbar peritoneal shunt may be needed. Surgical Intervention: Surgical interventions may be required to address external compression, e.g., styloidectomy, C1 shave) if anatomical structures are compressing the vein or to insert a stent in the jugular vein. Surgical fusion for CCI and AAI may sometimes help, if the compression is due to instability PROGNOSIS The prognosis for jugular vein compression is generally good if the cause is clearly identified and treated appropriately, especially in cases of mechanical compression (e.g., styloid or C1). However, outcomes can vary, especially if there are comorbid conditions like CCI and AAI, EDS, or IIH SOURCES https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1344-0 https://pmc.ncbi.nlm.nih.gov/articles/PMC6726807/ https://www.sciencedirect.com/science/article/pii/S0967586825002760 https://pmc.ncbi.nlm.nih.gov/articles/PMC6489808/

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/