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.
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).
Older participant only:
Younger participant only:
Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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