Jan 08, 2018
At 10 months of age, the participant was found to have low muscle tone (hypotonia) and developmental delay. He said his first words at 9 months and has added vocabulary slowly over the years. According to his speech therapist, he has a diagnosis of dysarthria. He began walking at 28 months, but developed a wide and abnormal walk (broad-based gait, gait ataxia). He now walks independently, but becomes tired after about 40 steps (increased muscle fatigability). He has difficulty with coordination and falls frequently (ataxia). However, he is able to eat independently and can follow two step commands.
The participant also has dark birthmarks on his forearms, face, and neck (mosaic hyperpigmented nevi) and light colored birthmarks on his hands and back (café au lait spots). Some of his other symptoms include: middle ear abnormalities (middle ear effusions, recurrent otitis media), and autism spectrum disorder.
If this participant sounds like you or someone you know, please contact us!
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