Researchers Explore the Global Prevalence and Incidence of …
WEBOct 5, 2023 · The pooled prevalence was 4.88 per 100,000. The prevalence of Huntington disease was significantly higher in North America (8.87 per 100,000) and Europe (6.37 per 100,000) compared with Africa (0.25 per 100,000). Compared to the period between 1985 and 2010, it is clear that the incidence/prevalence of Huntington disease has …
Hemophilia Prognosis - Rare Disease Advisor
WEBAug 10, 2021 · Acquired hemophilia A (AHA) is a rare but life-threatening disease. A study was conducted to evaluate prognostic factors in AHA. Several factors were assessed, including age, sex, underlying conditions, treatment regimen, and inhibitor titer. The all-cause mortality rate in the patients studied was 21%. Factors associated with the development ...
Hemophilia Types - Rare Disease Advisor
WEBHemophilia A is an X-linked recessive disease occuring due to a deficiency in functional plasma clotting factor VIII (FVIII) that is either inherited or due to spontaneous mutations. 3. Hemophilia A is the most common type, constituting approximately 80% of the total hemophilia population. It is observed in 1 in 5000 live male births.
Pompe Disease - Acid Maltase Deficiency | Rare Disease Advisor
WEBPompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a rare genetic disorder characterized by a deficiency or absence of the lysosomal acid alpha-glucosidase enzyme (GAA).GAA normally cleaves glycogen to form glucose. Abnormalities of the GAA enzyme due to mutations in the GAA gene result in an accumulation of glycogen in tissues, especially cardiac and ...
Cold Agglutinin Disease Testing - Rare Disease Advisor
WEBSep 9, 2021 · Cold agglutinin disease (CAD) is a rare condition that is found in association with 15% of cases of autoimmune hemolytic anemia (AIHA). Hemolysis mediated by cold agglutinins results in mild to moderate chronic anemia. Besides hemolysis, clinical features of CAD include cold-induced circulatory conditions such as Raynaud disease, acrocyanosis, and livedo reticularis. 1 CAD is diagnosed mainly ...
Neuromyelitis Optica Spectrum Disorder (NMOSD) - Rare Disease …
WEBOct 19, 2023 · Life Expectancy. Neuromyelitis optica spectrum disorder (NMOSD) is a chronic, autoimmune disorder of the central nervous system characterized by inflammation of the optic nerve and spinal cord. Patients with NMOSD typically suffer recurrent attacks of optic neuritis and transverse myelitis. 1,2.
Muscular Dystrophy History - Rare Disease Advisor
WEBThe first person to report on muscular dystrophy was Sir Charles Bell, a Scottish surgeon, anatomist, physiologist, and neurologist, who wrote an essay in 1830 about a disease that led to progressive muscle weakness in boys. 1. Six years later, 2 Italian physicians, Giovanni Semmola and Gaetano Conte, wrote about 2 brothers who had symptoms of ...
Overview of Sickle Cell Disease Types - Rare Disease Advisor
WEBNov 9, 2021 · Sickle cell disease (SCD) comprises a group of inherited red blood cell disorders characterized by structural abnormalities of hemoglobin, the protein responsible for transporting oxygen in blood throughout the body. 1. In SCD, red blood cells containing abnormally structured hemoglobin are sickle-shaped and rigid, so that blood cannot flow ...
Hemophilia Therapies - Rare Disease Advisor
WEBApr 26, 2024 · Therapeutic options for patients with hemophilia (HEM) have improved greatly over recent decades. Initially, therapy was limited to whole blood transfusion. Therapy then progressed to the administration of freeze-dried plasma concentrates of coagulation factor VIII (FVIII) for hemophilia A and prothrombin complex-containing factors II, VII, IX, and X for hemophilia B; these became available ...
Cold Agglutinin Disease (CAD) - Rare Disease Advisor
WEBAIHAs are subdivided into warm and cold types. Cold agglutinin disease (CAD) is the most common type of cold AIHA and accounts for 15% of all cases of AIHA. 1. CAD is a rare autoimmune disease in which cold agglutinins, or antibodies, attack red blood cells upon exposure to cold, causing hemolysis. This process results in AIHA that varies in ...