Gastrointestinal dysmotility
Possible conditions
Systemic Sclerosis: 6 Key Genes and 6 Biomarkers to Track
Systemic sclerosis (SSc), commonly known as scleroderma, is one of the most biologically complex autoimmune conditions encountered in clinical practice. It attacks on three fronts simultaneously: the immune system mounts a misdirected inflammatory response, the blood vessels sustain progressive damage, and the connective tissue undergoes abnormal fibrosis.
Fabry Disease: 4 Genes And 6 Biomarkers To Track
Living with Fabry disease — or supporting someone who does — means navigating a condition that most physicians encounter only a handful of times in their careers. The rarity of this diagnosis often translates into delayed care, generic symptom management, and a frustrating gap between what patients experience and what standard protocols address.
Congenital Ligamentous Laxity: 6 Genes And 7 Biomarkers To Track
Living with congenital ligamentous laxity means dealing with joints that move beyond their intended range — and the chronic pain, fatigue, and instability that often follow. Most people with this condition have heard the same advice for years: strengthen your muscles, do more physical therapy, work on stability.
Cartilage-Hair Hypoplasia: 5 Genes and 6 Biomarkers to Track
Living with cartilage-hair hypoplasia, or caring for someone who does, means navigating a condition that most doctors encounter once in a career, if ever. CHH is a rare autosomal recessive skeletal dysplasia caused by mutations in the RMRP gene, which encodes the RNA subunit of the RNase MRP enzyme.