Jun 01, 2018
Early in life, the participant began to show signs of motor delay. She sat and crawled at 10 months and walked at 16 months. She also had significant language delays, especially with expressive language. At age 4, she was only able to say “mom.” Around this time, she also started showing signs of developmental regression and became clumsy. A brain MRI showed abnormal signal changes in the white matter with a posterior periventricular predominance.
The participant can no longer walk independently and has lost other motor skills. She currently is wheel-chair dependent and requires assistance for daily activities. Some of her other symptoms include stiff and tight limbs (spasticity), underdeveloped hip joints (hip dysplasia), and involuntary muscle contractions (dystonia).
The participant’s 20-year-old brother has similar symptoms. He lost his fine and gross motor skills and showed progressively worse involuntary muscle contraction (dystonia) and muscle stiffness. Over time, he developed difficulty swallowing (dysphagia) and loss of bladder and bowel control (urinary and bowel incontinence). In addition, he uses a wheelchair due to his inability to walk and displays aggressive behavior, which has been treated with medication.
Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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