The patient met all of his milestones until the age of 4 months when he stopped progressing. At 5 months, he began to have infantile spasms and high levels of alanine and lactate were found in his blood (hyperalaninemia and increased serum lactate). The spasms stopped a few months later … read more
The participant was born by emergency cesarean section at 38 weeks. After failing to meet his developmental milestones, he was diagnosed with global developmental delay and low muscle tone (generalized hypotonia). At one-year-old, the participant began to have frequent seizures. Anti-seizure medications have helped reduce the number of seizures. He … 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
