How to diagnose progressive neurological symptoms in EDS?

Question

Hello doctor,

I have a chronic, progressive neurological syndrome involving multiple systems, which began five years ago. Initially, there was a sudden onset of right leg weakness, paresthesias (pins and needles) in the right foot, muscle twitching (fasciculations) in the legs, and overactive bladder symptoms. Weeks later, the symptoms extended to my right arm but then spontaneously resolved over several weeks.

Since then, I have experienced the following symptoms:

Intermittent relapses, including fatigue worsened by heat (Uhthoff’s phenomenon).
Neuropathic pain in the hands and left foot (burning sensation).
Weakness and reduced dexterity in both hands (worse on the right).
Numbness and heaviness in my left leg lasting about three weeks, occasional numbness and a “dead limb” sensation in the left arm, and worsened fasciculations after walking.
Brain fog.
Memory lapses.
Visual disturbances, such as bright sparkles when looking upward.
Dizziness (especially while driving or with neck extension).
Joint hypermobility (diagnosed as Ehlers-Danlos syndrome).
Bone and joint pain.

Prior to that, I was generally healthy apart from asthma and undiagnosed Ehlers-Danlos Syndrome. My current medications include Amitriptyline 10 mg for nerve pain, Mirabegron 50 mg for bladder issues, vitamin D supplements, Ibuprofen, and Paracetamol. My laboratory tests have shown a positive ANA (anti-nuclear antibody) result three times at a titer of 1:80 and low vitamin D levels. What could it be?

Please help.

Answer 1

Hello,

Welcome to icliniq.com.

I read your query and understood your concern.

I have reviewed your medical history, which describes a series of neurological symptoms over the past five years, some of which appear to be remitting. You also mentioned a diagnosis of Ehlers-Danlos syndrome.

To best assist you, could you please clarify your questions? Additionally, to provide a more thorough assessment, I require further information regarding your condition:

Was your diagnosis of Ehlers-Danlos syndrome confirmed through genetic testing, or was it a clinical diagnosis?
Were you hospitalized following the sudden onset of leg weakness, and was a stroke evaluated as a possible cause at that time?
Have you been examined by a neurologist since the initiation of your symptoms? If yes, what was their diagnosis?
Have you been assessed by a brain MRI (magnetic resonance imaging) and spinal cord MRI since then? If yes, please upload the report.
Have you been evaluated by vascular brain imaging, such as brain and cervical CT (computed tomography) angiography or MRI angiography? If yes, please upload the report.
Have you ever experienced numbness around your mouth or diplopia during a head turn or while looking upward?
Have you had any joint problems, frequent aphthous (canker sores) in your mouth or genital area, or severe eye inflammation?
Have you had any progressive atrophy (loss of muscle volume) in your limbs since then?

I wish to help you.

Kindly follow up with the required information, and if you have more doubts.

Thank you.

Answer 2

Hello,

Welcome back to icliniq.com.

I read your query and understood your concern.

I have received and carefully reviewed the magnetic resonance imaging (MRI) images provided (attachments removed to protect the patient’s identity). I am pleased to confirm that your brain and cervical spine MRI scans do not indicate multiple sclerosis. Therefore, the report done at your place was accurate, and the online tool's interpretation was incorrect. It is not a reliable tool for medical image interpretation.

Regarding your condition, I concur that your joint pain and symptoms are consistent with Ehlers-Danlos syndrome. My primary concern involves your symptoms during head extension and turning. Because Ehlers-Danlos syndrome can increase the risk of cervical artery injury during forceful neck movements, potentially leading to neurological symptoms or stroke. I suggest caution. Please avoid excessive backward head extension or forceful turning to minimize the risk of injury to your brain's blood supply. Normal head and neck movements are safe; please simply avoid extreme movements.

I also believe that an electrodiagnostic assessment, namely, a nerve conduction study (NCS) and electromyography (EMG), may help to reveal the cause of your paresthesia and numbness. Moreover, it can help us identify the underlying problem associated with the reported muscle loss in your limbs. Once completed, I would be happy to also review your nerve conduction study and electromyography (NCS-EMG) results.

I hope this helps.

Kindly follow up if you have more doubts.