The participant was born via C-section at 38 weeks old. Shortly after birth, he had jaundice and twisting of the neck (torticollis). As a toddler, his speech and other developmental milestones were delayed. He also had frequent nosebleeds as a child. He developed chronic eczema at around 5 months old … read more
The participant noticed that he was weaker than his peers in childhood. At age 23, he noticed difficulty getting up from a squatting position and climbing stairs, and began experiencing progressive muscle weakness involving muscles in his arms, legs, face, and eyes. He also developed heart muscle disease (dilated cardiomyopathy) … read more
At 20 months, the patient’s parents noticed that he was chewing and eating parts of his crib (pica). At this time, he was found to have low hemoglobin. He underwent an extensive workup, but the cause of his symptoms was not identified. Currently the patient receives iron supplementation to keep … read more
