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Participant 021

neurodegenerative condition
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Male, age 28, with a neurodegenerative condition involving weakness, seizures, tremors, & slurred speech

Kaiser Health News story

Date of Report

May 08, 2017


When the patient was in his early 20s, he started having episodes that involved shaking, vacant staring, and “shutting down” where he could not respond with any words other than “yes,” even when he wanted to say no. These episodes would last about an hour. Afterwards he would be very tired, but could recall the episodes happening. His primary care doctor suspected that low blood sugar levels were causing these episodes, but they continued despite normal blood sugar levels.

The patient was then seen by a behavioral specialist and diagnosed with panic attacks and severe anxiety. He was prescribed anti-anxiety medication, which did not help with his episodes. He was then referred to a neurologist, but testing was normal.

By age 22, the patient was having slurred speech, tremors, difficulty coordinating muscle movements in his trunk (truncal ataxia), overactive reflexes (hyperreflexia), and nerve damage (polyneuropathy). A DaTscan showed signs of a severe condition caused by decreased dopamine (hypodopaminergic condition). He was diagnosed with Parkinson’s disease, but did not feel his symptoms matched this diagnosis.

Since then, the patient’s symptoms have continued to worsen. He is unable to walk and has difficulty speaking (dysarthria) and swallowing (dysphagia). He has episodes almost daily and has started having seizures.

Symptoms / Signs
  • Loss of coordinated muscle movement, especially in the limbs (dysmetria)
  • Slowing of movements (progressive psychomotor deterioration)
  • Parkinson’s disease-like movements (Parkinsonism)
  • Decreased muscle tone (hypotonia)
  • Damaged nerve cells (motor axonal neuropathy)
  • Seizures
  • Tremor
  • Overactive reflexes (hyperactive deep tendon reflexes and hyperreflexia)
  • Progressive inability to walk and unsteadiness (gait ataxia)
  • Anxiety
  • Repetitive, uncontrolled eye movements (gaze-evoked and vertical nystagmus)
  • Difficulty swallowing (dysphagia)
  • Words broken into separate syllables (scanning speech)
  • Slurred and slow speech (dysarthria)
  • Degeneration of brain cells (atrophy/degeneration affecting the brainstem)
  • Loss of brain tissue (cerebral and cerebellar atrophy)
  • Curvature of the spine (scoliosis)
  • Abnormal cerebrospinal fluid levels (decreased CSF biopterin, neopterin, and homovanillic acid levels)
  • Abnormal pancreas (abnormality of pancreas morphology)
  • Constipation
  • High-arched foot (pes cavus)
Current Treatments
  • Sinemet- Parkinson’s like movements
  • Divalproex- seizures
  • Fluoxetine, Lorazapam- anxiety
Prior Treatments
  • Ativan, citalopram- anxiety
  • Depakote- seizures
Considered treatments
Previously Considered Diagnoses
  • Metabolic condition
  • Low blood sugar
  • Neuroblastoma
  • Parkinson’s disease
  • Vasculitis
  • Vitamin deficiency
Other Photographs
Genetic Variants of Interest

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