background participants

Participant 077


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Male, age 23 with an undiagnosed, young adult-onset neurological disorder with cognitive decline and uncontrolled seizures

Date of Report

Jun 13, 2018

Description

The participant was healthy until age 18. At this time, he was hospitalized for a severe rash on his hands, feet, and torso. He was suspected to have hand, foot, mouth disease. After this hospitalization and receiving the Gardasil shot, he continued to experience fatigue.

At age 22, the participant started having seizures (tonic-clonic). These seizures occur primarily when he is asleep in the early morning hours. EEGs show decline with almost constant theta slowing. He has been diagnosed with multi-focal epilepsy as well as intractable generalized epilepsy. In recent years, he has developed sudden muscle jerks (myoclonus) in various parts of the body. His eyes seemed to be particularly affected.

The participant has also developed a tremor and has been declining and losing skills. He has gone from a straight A student in both high school and junior college to having a lot of trouble with reading due to myoclonus. He has also forgotten how to re-string his guitar and has trouble remembering many songs he used to play. His daily living has been dramatically impacted by evolving neurological symptoms, often making walking hard due to unsteady gait. He is often frustrated by jaw myoclonus, which produces subtle speech interruptions.

The participant has a suspected diagnosis of epileptiform encephalopathy, but the genetic cause has not been identified. A change was identified in the NRXN1 gene, but his symptoms are not typical of the conditions associated with changes in this gene.

Symptoms / Signs
  • Seizures (young adult onset)
  • Epileptic encephalopathy
  • Mental deterioration
  • Difficulty speaking (dysarthria)
  • Difficulty swallowing (dysphagia)
  • Sudden muscle jerks (myoclonus)
  • Poor appetite
Current Treatments
  • Ativan
  • Clonazepam
  • Vimpat
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Kuf’s disease
Other Photographs
Genetic Variants of Interest
Contact

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