Neurological and Spinal Research in the Context of Hypermobility and Ehlers-Danlos Syndrome

Prevalence and Symptoms

Ehlers-Danlos Syndrome (EDS), particularly hypermobile EDS (hEDS), is associated with a range of neurological and spinal comorbidities that significantly impact the quality of life of those affected. While the exact prevalence of these comorbidities varies, research suggests that a substantial proportion of individuals with EDS experience some form of neurological or spinal complication.

Prevalence:

• Chiari Malformation is found in approximately 12-14% of patients with hypermobility or EDS, compared to about 0.1-0.5% in the general population.
• Craniocervical Instability (CCI) and Atlantoaxial Instability (AAI) are also more common in individuals with EDS, though precise prevalence rates are difficult to establish due to underdiagnosis and variability in diagnostic criteria.
• Tethered Cord Syndrome is increasingly recognized in EDS patients, with studies suggesting a higher prevalence in this population compared to the general population.

Symptoms associated with these conditions often overlap and can include:

• Chiari Malformation: Severe headaches, neck pain, balance issues, muscle weakness, difficulty swallowing, and dizziness.
• Craniocervical Instability (CCI): Chronic headaches, neck pain, vision disturbances, cognitive impairment, and breathing difficulties.
• Atlantoaxial Instability (AAI): Neck pain, headaches, numbness in limbs, weakness, and visual disturbances.
• Tethered Cord Syndrome: Lower back pain, leg weakness, bladder and bowel dysfunction, and scoliosis.

Theories on the Link Between Neurological/Spinal Issues and EDS

Several theories have been proposed to explain the connection between EDS, particularly hypermobility, and these neurological and spinal conditions:

1. Connective Tissue Laxity: EDS is fundamentally a connective tissue disorder, leading to laxity in the ligaments and other supporting structures of the spine. This laxity can result in structural instabilities, such as CCI and AAI, which in turn can cause compression of the brainstem, spinal cord, and nerves, leading to a range of neurological symptoms.
2. Altered Cerebrospinal Fluid Dynamics: In conditions like Chiari Malformation and Tethered Cord Syndrome, the flow of cerebrospinal fluid (CSF) can be disrupted, leading to increased intracranial pressure and subsequent neurological symptoms. EDS-related connective tissue abnormalities may exacerbate or contribute to these disruptions. This imbalance can contribute to Intercranial Hypertension (IH).
3. Mechanical Stress: The excessive joint mobility and instability seen in EDS patients place additional mechanical stress on the spine and surrounding tissues, potentially leading to conditions like CCI and AAI. This stress can cause or worsen existing neurological issues.

Latest Medical Research

Recent studies have made significant strides in understanding the relationship between EDS and these neurological and spinal comorbidities:

• Advanced Imaging Techniques: Innovations in imaging, such as upright MRI and dynamic flexion/extension MRI, have improved the ability to diagnose conditions like CCI and Chiari Malformation in EDS patients. These techniques allow for better visualization of structural instabilities that might not be apparent in traditional imaging.
• Surgical Outcomes: Research into the outcomes of surgical interventions for conditions like CCI and Chiari Malformation in EDS patients is starting to be published more by expert neurosurgeons, including Dr. Fraser Henderson. These studies are helping to refine surgical techniques and identify which patients are most likely to benefit from surgery.
• Non-Surgical Treatments: There is growing interest in non-surgical management options, such as physical therapy tailored to EDS patients, bracing, and pain management strategies. Research is ongoing to determine the most effective non-invasive treatments for these conditions.

Primary Nonprofits and Advocacy Organizations

Several nonprofits and advocacy organizations are leading the charge in researching and supporting individuals with EDS-related neurological and spinal conditions:

1. Bobby Jones Chiari & Syringomyelia Foundation (BJCSF): BJCSF is committed to finding cures for Chiari malformation, syringomyelia, and related disorders, including those seen in EDS patients. They support research, education, and patient advocacy.
2. Chiari & Syringomyelia Foundation: Dedicated to advancing knowledge and understanding of Chiari Malformation, syringomyelia, and related disorders, this foundation supports research, patient education, and advocacy efforts.
3. EDS Wellness: Focuses on providing health and wellness strategies for people with EDS and associated conditions, including neurological and spinal issues. They offer resources and support for managing these complex disorders.
4. American Syringomyelia & Chiari Alliance Project (ASAP): ASAP provides support and information for individuals living with Chiari Malformation, syringomyelia, and related conditions, and they fund research aimed at better understanding and treating these disorders.
5. Spinal CSF Leak Foundation: This organization focuses on education and support for conditions related to cerebrospinal fluid leaks, which can be a consequence of EDS-related spinal issues. They advocate for better awareness and research into these conditions.