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Participant 032

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Male, age 5 with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally)

Date of Report

Aug 22, 2017


At 6 months, the patient was not sitting or rolling and was found to have low muscle tone (hypotonia). Over time, his hypotonia has become more noticeable and currently he is unable to stand or walk. He has also developed involuntary muscle contractions (dystonia) and problems with coordination (ataxia). The patient does not communicate verbally, but receptive language is intact, and does use an assistive communication device. He is very social and engaged. The patient has been recently diagnosed with childhood onset dystonia with optic atrophy and basal ganglia abnormalities.

His younger brother (picture below) is similarly affected, and ataxic symptoms have slightly worsened, but has not developed dystonia. In addition to the symptoms above, the patients also have abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally).

Symptoms / Signs

Shared symptoms:

  • Global developmental delay
  • Problems with coordination (ataxia)
  • Low muscle tone (hypotonia)
  • Abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally)
  • Overlapping toes

Older participant only:

  • Dystonia

Younger participant only:

  • Droopy eyes (ptosis)
  • Birthmark (nevus)
  • Abnormal crease on the palm of the hand (bridged palmar crease)
  • Food and environmental allergies/sensitivities
  • Constipation
Current Treatments
  • Folinic acid
  • Baclofen (older sibling)
Prior Treatments
Considered treatments
  • Levodopa
  • Trihexyphenidyl
Previously Considered Diagnoses
  • Chromosomal disorder (karyotype and array- normal)
  • Friedreich’s ataxia (testing negative)
  • Metabolic condition (testing negative)
  • Leigh-like syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:

Inheritance Pattern
DNA Change
Protein Change
Autosomal recessive
Chr1: 29527025_29527026; Chr1: 29557457
c.830+2dupT; c.-39G>C*

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