During the first few months of life, the patient was developing normally. At 1 year old, she started to walk, but would fall frequently. An MRI at this time was normal, but it was recommended that she start physical therapy. She improved significantly with physical therapy and was jumping and … read more
When the patient was 4 months old, she was noticed to have poor head control and low muscle tone. At 10 months, she had a brain MRI that showed mild thinning of the nerve fibers that join the two hemispheres of the brain (called the corpus callosum) and delay in … read more
The participant was noticed to have developmental delays early in life. She also began to have seizures around age 6. At age 12, she started to have involuntary muscle contractions (dystonia). She developed difficulty speaking (dysarthria) as well, but this has since improved. In addition to these symptoms, the participant … read more
