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Participant 111

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Male, age 12, with rapid progression of muscle weakness, problems with coordination (ataxia), difficulty speaking (dysarthria), and severe cerebellar atrophy on brain imaging

Date of Report

Mar 01, 2019


The patient began experiencing muscle weakness and tiredness around 9 years old. He was found to have problems with coordination (ataxia), drooping eyelids (ptosis), and rapid, uncontrolled eye movements (nystagmus). A brain MRI showed moderate atrophy of his cerebellum. His symptoms have progressed quickly and he now requires the use of a wheelchair and 1:1 aide at school. He currently needs assistance with almost all activities of daily life.

Symptoms / Signs
  • Muscle weakness
  • Easily tired (easy fatigability)
  • Brain wasting seen on MRI (cerebellar atrophy)
  • Problems with coordination (ataxia)
  • Uncontrollable, rhythmic shaking (tremor, head and truncal titubation)
  • Difficulty speaking (dysarthria)
  • Migraine
  • EEG abnormality
  • Drooping eyelids (ptosis)
  • Uncontrolled rapid eye movements (nystagmus)
  • Teeth grinding (bruxism)
  • Lack of coordination of arms and legs (limb dysmetria)
  • Sleep apnea
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Hereditary ataxia syndrome
  • Metabolic condition
  • Mitochondrial disease
Other Photographs
Genetic Variants of Interest

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


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