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Participant 062

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Male, age 56, with weakness, difficulty walking, polyneuropathy, seizure-like events, and cognitive decline

Date of Report

Apr 30, 2018


The participant was healthy until age 15 when he had a surfing accident. This accident resulted in a brain injury and cervical spine fractures. A year after this accident, he began having seizures, but these resolved without treatment approximately a year later.

When the participant was 44 years old, he developed left-sided weakness and severe headaches. Over the course of the year, he began experiencing additional symptoms, such as numbness, muscle cramping, and episodes of vision loss. A brain MRI done at this time showed abnormalities (multiple small, scattered T2 white matter hyperintensities). Spine imaging revealed no lesions. He was diagnosed with probable multiple sclerosis and tried numerous therapies, including IV steroids, Rebif injections, Tysabri, and Aubagio. He had episodes of relapses throughout his IV steroid treatment. At age 53, the diagnosis of multiple sclerosis was questioned since he did not have brain and spinal cord lesions consistent with multiple sclerosis, there were no oligoclonal bands on cerebrospinal fluid, and he had a history of polyneuropathy.

Since then, the patient’s weakness, pain, and difficulty walking have increased. He has also been experiencing mild, but progressive, cognitive decline and seizure-like events.

Symptoms / Signs
  • Muscle weakness
  • Brain injury (left temporal lobe injury)
  • Abnormality of the brain (abnormality of the cerebral white matter) thought to be related to hypertension
  • Mental deterioration
  • Episodic transient visual loss
  • Difficulty walking (gait disturbance)
  • Stroke-like episode
  • Non-epileptic seizure-like events
  • Decreased muscle mass (skeletal muscle atrophy)
  • Damaged nerves (sensorimotor and constrictive median neuropathy)
  • Lazy eye (amblyopia)
  • Lung disease (chronic obstructive pulmonary disease) thought to be related to history of smoking
  • High arched foot (pes cavus)
  • Foot drop (foot dorsiflexor weakness)
  • Chronic pain
  • High blood pressure (hypertension)
Current Treatments
  • Diazepam – seizures
  • Hyoscyamine – muscle cramps
  • Ipratropium Bromide – chronic obstructive pulmonary disease
  • Morphine, oxycodone, Phenergan, Ondansetron – chronic pain
  • Quinapril – hypertension
Prior Treatments
  • IV steroids – muscle exacerbations
  • Rebif injections, Tysabri, Aubagio –  muscle weakness
  • Rituximab – autoimmune disease
Considered treatments
Previously Considered Diagnoses
  • Autoimmune condition
  • CADASIL syndrome
  • Charcot-Marie-Tooth disease
  • Chronic inflammatory demyelinating polyneuropathy
  • Lyme disease
  • Multiple sclerosis
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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