Muscular Dystrophy History - Rare Disease Advisor
The 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 ...
Sickle Cell Disease Life Expectancy - Rare Disease Advisor
Oct 17, 2023 · A study published in 2019 estimated the life expectancy of adults with SCD to be 54 years, which is approximately 20 years shorter than that of adults without SCD. 1 A study published in 2023 reported similar findings, stating that the average life expectancy of Medicare and Medicaid beneficiaries with SCD was approximately 52.6 years.
Systemic Sclerosis Life Expectancy - Rare Disease Advisor
Systemic sclerosis (SSc) is a rare connective tissue disease that is characterized by inflammation, vasculopathy, and excessive fibrosis. SSc can cause thickening of the skin and internal organs, as well as damage to the blood vessels, muscles, and joints. The extension of skin lesions in SSc allows for further classification of the disease into limited cutaneous and diffuse cutaneous SSc. 1
Rare Disease News, Perspectives & Resources - Rare Disease Advisor
November 6, 2024. New Platform, Fueled by AI, Connects Patients With Rare Disease Worldwide. Having somebody to talk to, a person who understands what it’s like living with myasthenia gravis (MG), or another rare disease, is difficult to find. By Tom Bartlett, MG Contributor. November 6, 2024.
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare, acquired, immune-mediated neurological disease characterized by inflammation of peripheral nerves and nerve roots with destruction of the myelin sheath, which is the fatty protective covering of the nerve fibers. This demyelination results in typical symmetrical motor and sensory weakness. 1 Both sexes can develop CIDP at any ...
Overview of Sickle Cell Disease Types - Rare Disease Advisor
Nov 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 ...
Cold Agglutinin Disease Signs and Symptoms - Rare Disease Advisor
Disease severity can range from mild symptoms, such as painful fingers and toes due to cold agglutinin-mediated acrocyanosis, up to catastrophic hemolysis and end organ failure in extreme cases. 2 More commonly, anemia is present to some degree in most individuals, resulting in varying degrees of fatigue, weakness, and shortness of breath.
Spinal Muscular Atrophy (SMA) - Rare Disease Advisor
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease affecting an estimated 1 in 6000 to 1 in 10,000 live births. The carrier frequency of the disease is estimated at 1 in 40 to 1 in 60. 1 It is the second most common cause of infant death from an autosomal recessive disorder, after cystic fibrosis. 1,2.
Hemolytic Disease of the Fetus and Newborn (HDFN)
Overview. Hemolytic disease of the fetus and newborn (HDFN), also known as erythroblastosis fetalis, is a rare immune-mediated red blood cell (RBC) disorder in which a mismatch between mother and fetus causes maternal antibodies to attack fetal or newborn RBCs. 1 This destruction of fetal or neonatal RBCs by maternal immunoglobulin G (IgG ...
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 Chicago Presbyterian Hospital where he met Dr. James B. Herrick (1861-1954), a cardiologist and professor of medicine. Noel experienced recurrent episodes of “muscular rheumatism” and “bilious attacks” over ...