background participants

Participant 044

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Male, age 20, with developmental regression, paralysis (spastic tetraplegia), and brain damage (cerebellar atrophy) caused by a change in the IRF2BPL gene

Date of Report

Jan 04, 2018


The participant was meeting his developmental milestones until age 6 when he started to struggle with walking, falling 2-3 times a month. He also started slurring his words and his speech became muffled, making it difficult to understand.

A year later when he was evaluated, he was found to have difficulty controlling voluntary movements (ataxia), overactive reflexes (hyperreflexia), and uncontrolled eye movements (nystagmus). At the age of 9, he started having myoclonic jerks 1-3 times a day. Over time, the weakness in his face and limbs progressed causing difficulty with writing, walking, and feeding. Currently the participant is nonverbal, wheelchair dependent, uses a G-tube for feeding, and has brain damage (diffuse cerebral atrophy).

Symptoms / Signs
  • Difficulty controlling voluntary movements (ataxia)
  • Paralysis (spastic tetraplegia)
  • Loss of ability to walk
  • Continuous muscle contraction (spasticity)
  • Increased muscle tone (hypertonia)
  • Decreased muscle mass
  • Sudden muscle jerks (myoclonus)
  • Dementia
  • Cognitive impairment
  • Brain damage (diffuse cerebral atrophy)
  • Abnormality of brainstem morphology
  • Facial paralysis (facial diplegia)
  • Repetitive, uncontrolled eye movements (nystagmus)
  • Eye turned outward (exotropia)
  • Nasal speech
  • Difficulty swallowing (dysphagia)
  • Lockjaw (trismus)
  • Feeding difficulties
  • Weakness of stomach muscles (gastroparesis)
  • Absent speech
  • Constipation
  • Inability to fully straighten knee, foot, wrist and elbow (flexion contracture, plantar flexion contractures, elbow flexion contracture, wrist flexion contracture)
  • Hyperactive knee reflexes (hyperactive patellar reflex)
  • Abnormality of foot reflex (Babinski sign)
  • Limited joint mobility
Current Treatments
  • Baclofen pump injections- extremities
  • G-tube- feeding
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Friedreich’s ataxia
  • Huntington’s disease
  • Lysosomal storage disorder
  • Metabolic condition
  • Mitochondrial condition
  • Peroxisomal disorder
  • Spinocerebellar ataxia
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms (Marcogliese et al, 2018):

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
see gene page
see gene page
see gene page
see gene page

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


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