Archives: Conditions A-Z
Pulmonary Arterial Hypertension
Pulmonary Arterial Hypertension What is Pulmonary Arterial Hypertension? Pulmonary arterial hypertension (PAH) is a rare, progressive disease characterized by abnormally…
Systemic Mastocytosis
What is Systemic Mastocytosis? Systemic Mastocytosis (SM) is a rare hematological disorder characterized by the abnormal accumulation and activation of…
Primary Immunodeficiency
What is Primary Immunodeficiency? Primary immunodeficiency (PID) refers to a group of more than 400 rare genetic disorders that affect…
Myasthenia Gravis
What is Myasthenia Gravis? Myasthenia gravis (ORPHA code 589) is a rare autoimmune neuromuscular disorder characterized by fluctuating weakness and…
Pompe Disease
What is Pompe Disease? Pompe disease is a rare genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA),…
Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis (ALS) What is Amyotrophic Lateral Sclerosis? Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease or…
Spinal Muscular Atrophy
What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder characterized by the progressive loss…
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy What is Duchenne Muscular Dystrophy? Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterized by progressive…