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Participant 055

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Female, age 14, with ataxia and progressive myoclonic epilepsy caused by a change in the ADGRV1 gene

Date of Report

Jun 21, 2019


During the first few months of life, the patient was developing normally. At 1 year old, she started to walk, but would fall frequently. An MRI at this time was normal, but it was recommended that she start physical therapy. She improved significantly with physical therapy and was jumping and climbing stairs by age 3, but still fell more often than other children. Her speech was a bit slow, but there were no concerns about her cognition.

At age 4, she started having episodes where her left leg “wouldn’t work.” When this would happen, she would suddenly stumble or her leg would turn inwards. Around this time, she had a seizure (generalized tonic clonic) in the morning, which lasted about 5 minutes. An EEG was reportedly abnormal and she was started on Levetiracetam. After this seizure event, she had sudden jerking (myoclonic) movements in her left leg. By 5 years old, she could no longer walk due to these movements and had to crawl to get around. By 5 ½, she lost the ability to crawl. She could still sit up and feed herself, but by age 6, she lost her fine motor skills as well. By age 7, she wasn’t eating much, was very sad, and stopped talking. To evaluate for the possibility of an autoimmune cause, Oral steroids were added at this time, which temporarily helped to improve her cognition and mood. Further immunotherapy with IVIG and rituximab was not clearly beneficial.

Symptoms / Signs
  • Shock-like jerking seizures (generalized myoclonic seizures)
  • Developmental regression
  • Progressive inability to walk
  • Brain imaging abnormalities (mildly simplified and thickened bifrontal cortical gyration)
  • Speech difficulties (dysarthia)
  • Vocal tremor
  • Heart defect (patent ductus arteriosus)
  • Abnormal posturing (left arm flexed and adducted dystonic posture with hand fisting)
  • Uncontrolled left arm movements (left upper limb spasticity)
  • Low muscle tone of trunk (muscular hypotonia of the trunk)
  • Difficulty estimating distance when making muscle movements (bilateral dysmetria)
  • Involuntary muscle contraction (dystonia)
  • Involuntary jerking movements (myoclonus)
  • Lower limb joint contractures
  • Hyperactive deep tendon reflexes
  • Abnormal movement of the extremities (limb ataxia)
  • Chronic constipation
Current Treatments
  • Amantadine – alertness
  • Clonazepam, Zonisamide, brivaracetam – seizures
  • Glycopyrrolate –  oral secretions
  • IVIG treatment monthly – no diagnostic evidence of autoimmune encephalitis
  • Miralax – constipation
Prior Treatments
  • Botox in right hip and both Achilles’ tendons
  • Folinic acid
  • Intrathecal stem cell administration – progressive movement disorder
  • Kuvan
  • Levetiracetam, Ativan, Perampanel – seizures
  • Prednisone, rituximab – possibility of autoimmune encephalitis
Considered treatments
Previously Considered Diagnoses
  • Cerebral palsy
  • Limbic encephalitis
  • Unverricht-Lundborg and associated diseases
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

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


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