Actin-accumulation myopathy Overview Actin-accumulation myopathy is a rare, life-threatening genetic disorder caused by mutations in the ACTA1 gene. It triggers severe muscle weakness and poor tone (hypotonia), severely impacting breathing and swallowing in infancy. Because of respiratory failure, many individuals do not survive past the newborn stage Symptoms Skeletal Muscle Weakness (Myopathy) Neonatal Hypotonia: Affected newborns appear "floppy," lack spontaneous movement, and struggle to control their head movements. Generalized Weakness: Severe muscle weakness is present throughout the body. Delayed Motor Milestones: Infants and children who survive infancy face severe delays in learning to sit, crawl, stand, and walk. Facial Weakness: Noticeable facial muscle weakness, a weak cry, and drooping eyelids are common. Respiratory and Bulbar Issues Breathing Difficulties: Impaired respiratory muscles cause shallow breathing (hypoventilation), which is often worse during s...
Primary macronodular adrenal hyperplasia (PMAH) Overview Primary macronodular adrenal hyperplasia (PMAH) is a rare disorder causing bilateral enlargement of the adrenal glands with multiple distinct nodules, leading to the overproduction of cortisol. It usually manifests in a person's 40s or 50s and results in Cushing syndrome Symptoms Because PMAH causes excess cortisol production that is independent of the pituitary gland, patients primarily show symptoms associated with Cushing's syndrome: Physical Changes: "Moon face" (rounded face), a "buffalo hump" (fat deposit between the shoulders), and increased abdominal fat. Skin Issues: Thin, fragile skin that bruises easily, slow-healing cuts, and red or purple stretch marks (striae). Bone and Muscle : Muscle wasting (especially in the upper thighs and arms) and bone density loss (osteoporosis). Excess cortisol heavily impacts metabolism and cardiovascular health: Hypertension: High blood pressure is a very co...