Rare & Complex Diseases

Disease Introduction Myasthenia gravis is an autoimmune disease characterized by impaired neuromuscular junction transmission. Patients produce antibodies that attack the neuromuscular junction, leading to muscle fatigue and weakness. Typical symptoms include drooping eyelids, double vision, difficulty chewing and swallowing, and weakness in the limbs, which worsen with activity and improve with rest, and are more severe in the evening than in the morning. Most cases are ocular myasthenia gravis, but some

Disease Introduction Neuromyelitis spectrum optica disorder (NMOSD) is a rare autoimmune disease of the central nervous system, often caused by the production of anti-aquaporin 4 antibodies (AQP4-IgG) that mistakenly attack the optic nerve and spinal cord. Symptoms include decreased vision, numbness and weakness in the limbs, hiccups and vomiting, and bowel and bladder dysfunction. Recurrent attacks can lead to blindness or paralysis. The disease is more common in young adult women; early diagnosis and tr

Disease Introduction Scleroderma, medically known as systemic sclerosis, is an autoimmune disease in which the immune system mistakenly attacks the skin and internal organs, causing the skin to gradually thicken, harden, and tighten. It can also affect the lungs, heart, digestive tract, and blood vessels. Early symptoms often include Raynaud's phenomenon, where the fingers turn white or purple when exposed to cold. With proper treatment, fibrosis can be slowed and vital organs can be protected. Cutting-ed

Disease Introduction Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a neurodegenerative disease characterized by the progressive degeneration of upper and lower motor neurons that control voluntary movement. Patients experience weakness in the limbs, muscle atrophy, and difficulty swallowing and breathing, but their consciousness, thinking, and sensation are usually clear. Most patients die from respiratory failure within 3-5 years of onset, but there is significant indivi

Disease Introduction Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that commonly affects women of childbearing age. The immune system mistakenly attacks its own organs, including the skin, joints, kidneys, blood, and nervous system, manifesting as facial erythema, recurrent fever, joint pain, fatigue, and proteinuria. The condition fluctuates in severity and is prone to relapse. With advancements in biologics and immunotherapy, most patients can achieve long-term disease control and m