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Participant 145

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Female, age 29 with difficulty controlling muscle movements (ataxia), difficulty speaking (dysarthria), muscle spasms and visual loss

Date of Report

Sep 27, 2019


The participant first developed symptoms at age 26, though it is possible that there were some symptoms earlier in her life as well. During a period of intense stress, she suddenly had difficulty speaking (dysarthria), muscle weakness, difficulty walking, poor coordination and muscle spasms. At this time, she also developed depression, anxiety and sleep disturbances along with her physical symptoms.

After a few months of persistent symptoms, she had a neurologic evaluation which revealed visual loss, absent reflexes and a brain abnormality (cerebellar atrophy). She has been evaluated by many specialists and has tried physical therapy and acupuncture without any change to her symptoms.

Clinicians suspect an autoimmune or inflammatory cause for the participant’s symptoms because of testing that showed teased nerve fiber internodal variability.

Symptoms / Signs
  • Brain abnormality (cerebellar atrophy)
  • Visual loss
  • Retinal disorder (pigmentary retinopathy)
  • Difficulty speaking (dysarthria)
  • Difficulty swallowing (dysphagia)
  • Difficulty controlling muscle movements (ataxia)
  • Muscle spasm
  • Tremor
  • Burning/prickling sensation (paresthesia)
  • Damaged nerves in hands and feet (peripheral neuropathy)
Current Treatments
  • Acupuncture
  • Diazepam – muscle spasms
  • Methocarbamol – muscle spasms
  • Physical therapy
  • Propranolol – tremor
  • Tizanidine – muscle spasms
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Autoimmune disorder
  • Endocrine disorder
  • Friedrich’s ataxia
  • Metabolic condition
  • Mitochondrial disorder
  • Spinocerebellar ataxia
Other Photographs
Genetic Variants of Interest

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


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