background participants

Participant 031


IRF2BPL

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Male, age 6 with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination

Date of Report

Aug 22, 2017

Description

The patient was meeting his developmental milestones until age 2.5 when he started losing skills. He was previously able to walk, but now has trouble sitting and holding his head upright. He has lost his fine motor skills and keeps his hands in a fist position. His parents report that he seems to be able to understand when others are talking to him, but struggles to move his mouth to form words.

At age 5, he was found to have brain disease (progressive encephalopathy), low muscle tone (muscular hypotonia), and difficulty controlling voluntary movements (limb and truncal ataxia). He also has loose ligaments (ligamentous laxity), uncontrollable movements (choreoathetosis), and overactive reflexes (hyperreflexia).

Symptoms / Signs
  • Developmental regression
  • Brain disease and damage (progressive encephalopathy and cerebellar ataxia)
  • Abnormal brain activity (EEG abnormality)
  • Problems controlling voluntary movements (limb and truncal ataxia)
  • Difficulty estimating distance when making muscle movements (dysmetria)
  • Uncontrollable movements (choreoathetosis)
  • Low muscle tone (muscular hypotonia)
  • Loose ligaments (ligamentous laxity)
  • Overactive reflexes (hyperreflexia)
  • E ye muscle paralysis (ophthalmoplegia)
  • Eye turned inward (esotropia)
  • Eye turned outward (exotropia)
  • Damage to nerve in eye (cranial nerve VI palsy)
  • Difficulty swallowing (dysphagia)
  • Drooling
  • Loss of bowel and bladder control (bowel and urinary incontinence)
  • Constipation
  • Delayed speech and language development
  • Sleep disturbance
Current Treatments
  • Miralax- constipation
  • Baclofen (during the day) and Neurontin (at night) – dystonia
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Lysosomal storage disorder
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the patient’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
chr14:77493622
NM_024496.3
c.514G>T
p.Glu172Ter
Contact

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