Ehlers-Danlos syndrome and Craniocervical instability: Making a diagnosis

Ross Hauser, MD, Caring Medical Florida, Hauser Neck Center

Treatment of Ehlers-Danlos syndrome-related craniocervical instability is challenging enough. Not having an initial, accurate diagnosis can make it more challenging. A lack of a diagnosis can send patients on a many-year journey searching for help that they cannot get because they and their doctors are chasing the wrong problem. If you are reading this article, that last sentence may describe your own journey of ineffective treatments and misdiagnosis.

You are not alone in this. Many people contact our offices looking for answers that may help them. Many times we can help these people with our treatments. Who can we help? Properly screened candidates who we can diagnose with cervical or craniocervical instability.

This article will concentrate on the diagnoses aspect of craniocervical instability and then provide links to treatments.

People tell their stories.

Often people will contact us with their medical history. A common factor in these stories is the person’s feelings of frustration and isolationism. A dark feeling that no one can help them. Let’s see if these stories sound like yours.

My biggest problem is C1 and C2 instability and the chronic neck pain and developing symptoms it is causing me.

I have been diagnosed with Ehlers Danlos hypermobility (hEDS) type. My biggest problem is C1 and C2 instability and the chronic neck pain and developing symptoms it is causing me. What started out as neck pain has now developed turned into lightheadedness, brain fog, dizziness, blurred vision and other problems.

I have had many tests done and there was nothing that my doctors can pinpoint. I do have scans that show cervical instability and loss of cervical lordosis. My doctors are convinced that this has something to do with my problems and finally, a doctor gave me the thought that this may all be coming from Ehlers Danlos Syndrome. However, this doctor is also recommending a cervical fusion that I do not want and I do not feel will improve my quality of life. I am looking for other options and I would like to understand Ehlers Danlos Syndrome and what it is doing to me.

I am going down the rabbit hole again – my doctors don’t know how to treat me based on this diagnosis.

I have been searching online looking for any answers to the problems that I have been suffering from for the last 20 years. Just recently, after countless “false trails,” and misdiagnosis, and “rabbit holes,” I was diagnosed with Ehlers-Danlos syndrome. The problem now is that the doctors I am seeing don’t know how to treat me based on this diagnosis. My scans and MRIs reveal craniocervical instability and Chiari malformation. I have brain fog, I lose my balance easily, I have crepitus (crunching) noisy neck on movement. My last few doctor visits have centered on what type of surgeries will be effective or even if they will be effective. I feel like they are drawing straws on what type of surgery I should have.

It started with neck pain and then it developed into a quick descent into many debilitating symptoms.

I have Ehlers Danlos Syndrome, and the many symptoms  of craniocervical instability. It started with neck pain and then it developed into a quick descent into many debilitating symptoms. I was eventually diagnosed with craniocervical instability and a complete loss of my cervical lordosis. Then I was diagnosed with  Mal de debarquement syndrome because I am always swaying. I also have pain throughout my face, jaw, mouth and have migraines. My doctors are at a loss.

In the stories above we see that the person is being told to consider a cervical fusion surgery. A reason for the surgical recommendation is the development of bone spurs. In this image we see C1-C2 bone spurs in a patient with Ehlers-Danlos syndrome and symptoms of upper cervical instability. The body is overgrowing bone to try to stabilize this person’s C1-C2 vertebral joint. In this patient fusion and the shaving down of the bone spurs may be avoided by cervical ligament repair Prolotherapy injections. This is explained below.

Very little research in exploring a myriad of problems seen in patients with hEDS and Craniocervical instability.

One of the great problems people suffering with the problems described by the people above is first getting doctors to believe that there is something wrong with them that does not require mental health counselling, and second, getting a diagnosis that is real to their problems of cervical spine or craniocervical instability and Ehlers-Danlos syndrome.

A paper from 2017 published in the American journal of medical genetics. Part C, Seminars in medical genetics (1) reports on “the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium (soft tissue) surrounding peripheral nerves.”

What the doctors here were trying to do was connect Ehlers-Danlos syndrome and craniocervical instability with symptoms to include “increased prevalence of migraine, idiopathic intracranial hypertension, Tarlov cysts (nerve root cysts), tethered cord syndrome, and dystonia, where associations with Ehlers-Danlos syndrome have been anecdotally reported, but where epidemiological evidence is not yet available.”

Further, they explored the connection between Chiari Malformation Type I (CMI) and Ehlers-Danlos syndrome, and hopw this condition may be complicated by craniocervical instability or basilar invagination. Motor delay, headache, and quadriparesis have been attributed to ligamentous (ligament) laxity and instability at the atlanto-occipital and atlantoaxial joints, which may complicate all forms of EDS.

They continued: “Discopathy and early degenerative spondylotic disease manifest by spinal segmental instability and kyphosis, rendering EDS patients prone to mechanical pain, and myelopathy. Musculoskeletal pain starts early, is chronic and debilitating, and the neuromuscular disease of EDS manifests symptomatically with weakness, myalgia, easy fatigability, limited walking, reduction of vibration sense, and mild impairment of mobility and daily activities. Consensus criteria and clinical practice guidelines, based upon stronger epidemiological and pathophysiological evidence, are needed to refine diagnosis and treatment of the various neurological and spinal manifestations of EDS.”

“Refine diagnosis and treatment of the various neurological and spinal manifestations of Ehlers-Danlos syndrome.” The challenges of diagnosis

That is how the above paper concludes. The researchers are suggesting to their colleagues that we look for ways to more accurately assess the patient with various neurological and spinal manifestations of Ehlers-Danlos syndrome.

At the Association of British Neurologists (ABN) / Society of British Neurological Surgeons (SBNS) Joint meeting of September 2018, (2) research lead by The National Hospital for Neurology and Neurosurgery in London, presented the following findings on the effectiveness or ineffectiveness of employing recumbent (lying flat) or upright, dynamic MR imaging to determine the extent of cervical spine hypermobility in patients suspected of Ehlers-Danlos syndrome. Here is the summary of findings:

• In patients with Ehlers-Danlos syndrome, neck pain is a prominent feature. Structural abnormalities may have a dynamic (in motion) element that may not be captured in a recumbent (lying flat – static) MRI.
• When standing in upright MRI, the neck can be posed in extension and flexion and these MRIs can demonstrate a greater amount of abnormalities.
• Still, there is currently a lack of evidence assessing the use and diagnostic impact of positional MRI in Ehlers-Danlos syndrome.

The digital motion x-ray is explained and demonstrated below. This is one of our tools in demonstrating cervical instability in real-time and motion. When you watch the video, you will see a moving image of this patient’s neck. This gives our clinicians an insight through the patient’s range of motion where impingement or compression may be occurring.

• Digital Motion X-ray is a great tool to show instability at the C1-C2 Facet Joints
• The amount of misalignment or “overhang” between the C1-C2 demonstrates the degree of instability in the upper cervical spine.
• This is treated with Prolotherapy injections (explained below) to the posterior ligaments that can cause instability.
• At 0:40 of this video, a repeat DMX is shown to demonstrate correction of this problem.

The challenges of cervical instability are many. Fixing cervical neck instability is not something can be treated simply or easily, it takes a comprehensive non-surgical program to get the patient’s instability stabilized and the symptoms abated. We believe that if you have been going from clinician to clinician, practitioner to practitioner, doctor to doctor, there is a good likelihood that you have problems of cervical neck instability coming from weakness and damage to the cervical ligaments. Our treatments of Comprehensive dextrose Prolotherapy and in some cases Platelet Rich Plasma Prolotherapy can be an answer.

Repairing the ligaments and curve for a long-term fix

The goal of our treatment is to repair and strengthen the cervical ligaments and get your head back in alignment with the shoulders in a normal posture. 

1 Henderson Sr FC, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S. Neurological and spinal manifestations of the Ehlers–Danlos syndromes. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 195-211). [Google Scholar]
2 Prezerakos GK, Khan F, Davagnanam I, Smith F, Casey AT. FM1-7 Cranio-cervical instability in ehlers-danlos syndrome employing upright, dynamic MR imaging; a comparative study. Journal of Neurology, Neurosurgery and Psychiatry. 2019 Mar 1;90(3):e22. [Google Scholar]

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