Achondroplasia Genetics - Rare Disease Advisor
Although rare, achondroplasia is the most common skeletal dysplasia affecting humans, accounting for more than 90% of cases characterized by disproportionately short stature. 1 …
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a heterogeneous group of rare autoimmune diseases in which ANCA target and activate neutrophils. These, in turn, …
Achondroplasia Life Expectancy - Rare Disease Advisor
Oct 22, 2024 · Most individuals with achondroplasia, the most common type of short-limbed and short-stature dwarfism, have a normal or near-normal life expectancy. 1 The average lifespan …
Systemic Sclerosis Life Expectancy - Rare Disease Advisor
Systemic sclerosis (SSc) is a rare, autoimmune connective tissue disease that is characterized by chronic inflammation, vasculopathy, and excessive fibrosis. SSc can cause thickening of the …
IgG4-Related Disease Signs and Symptoms - Rare Disease Advisor
Immunoglobulin G4-related disease (IgG4-RD) is a chronic fibroinflammatory disorder that was identified in the 21st century. It is recognized as a systemic, immune-mediated condition, and …
Rare Disease News, Perspectives & Resources - Rare Disease Advisor
Rare Disease News is the premier online resource for the latest rare disease news, perspectives and information.
Transthyretin-Mediated Amyloid Cardiomyopathy (ATTR-CM)
Transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) is a subtype of systemic amyloidosis in which abnormally folded, insoluble transthyretin protein forms amyloid fibrils that are …
History of Sickle Cell Disease - Rare Disease Advisor
The first case of sickle cell disease (SCD) in the United States was described in 1904 when Walter Clement Noel, a 20-year-old dental student from Grenada, sought care for anemia at …
Dravet Syndrome Life Expectancy - Rare Disease Advisor
Dravet syndrome (DS) is a rare form of childhood epileptic encephalopathy characterized by frequent, prolonged, intractable seizures that contribute to developmental delays, cognitive …
Transthyretin Amyloid Polyneuropathy Overview - Rare Disease …
Transthyretin amyloid polyneuropathy (ATTR-PN) is a rare, progressively debilitating inherited disease in which amyloid fibrils accumulate in the peripheral nervous system and vital organs. …