Aug 22, 2017
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).
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.