background participants

Participant 060


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Male, age 11 with childhood onset dystonia 28

Date of Report

Apr 05, 2018

Description

The participant was healthy with no medical concerns until the age 5. Around this time, his mother noticed that his right foot was turned in. Over time, his started to become rigid and he lost his ability to walk by the age of 10. He also had unusual movements in hands and arms when his fingers would extend and stiffen. These movements increased when he was anxious. Currently he can take a few steps, but tires easily and cannot use his hands easily. He also struggles to speak loudly, but can articulate well. He has been diagnosed with childhood onset dystonia 28.

Symptoms / Signs
  • Involuntary muscle contractions (dystonia)
  • Uncontrollable movements (choreoathetosis)
  • Stiff and tight limbs (spasticity)
  • Episodic impaired voluntary movements (paroxysmal dyskinesia)
  • Slow movement (bradykinesia)
  • Increased muscle tone (hypertonia)
  • Excessive muscle volume in arms (upper limb muscle hypertrophy)
  • Difficulty walking (spastic gait, scissor gait)
  • Small head (microcephaly, <-3SD)
  • Low hairline on forehead (low anterior hairline)
  • Small jaw (micrognathia)
  • Dental crowding
  • Abnormality of adenoids (nasopharyngeal)
  • Difficulty speaking (spastic dysarthria, dysphonia)
  • Curvature of the spine (scoliosis)
  • Inability to straighten the knee (flexion contracture)
  • Overactive reflex in knee (hyperactive patellar reflex)
  • Early puberty (precocious puberty)
Current Treatments
  • Baclofen
  • Diazepam
  • Trihexyphenidyl
Prior Treatments
Considered treatments
  • Globus pallidus interna-deep brain stimulation (GPI-DBS)
Previously Considered Diagnoses
  • Friedreich’s ataxia
  • Huntington’s disease
  • Mitochondrial condition
  • Neurodegeneration
  • Primary torsion dystonia
  • Progressive dystonia plus syndromes
  • Wilson’s syndrome
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr19: 36220881
NM_014727.2
c.4931G>T
p.Cys1644Phe
Contact

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