After intentionally losing a significant amount of weight at age 14, the participant began to experience back pain and was later hospitalized for generalized tissue swelling (anasarca) as well as high blood sugar levels. He was identified to have weak and brittle bones (osteoporosis), fractures of bones of the spine … read more
The participant was born at 39 weeks gestation after an uncomplicated pregnancy. Shortly after birth, he was evaluated for feeding difficulties requiring an NG tube which was difficult to pass. Approximately 1 month after birth, a referral to ENT was made after noting heavy, loud breathing. A CAT scan observed … read more
The participant experiences progressive weakness in his lower limbs. Early in his disease course, he was suspected to have spinal muscular atrophy and Charcot-Marie-Tooth disease type 2. Genetic testing later ruled out these diagnoses. An electromyogram (EMG) showed evidence of nerve damage (axonal neuropathy). In his more active years, the … read more
