Rare Disease News, Perspectives & Resources - Rare Disease Advisor
WEBUntangling the Link Between Smoking, SCD, and PAH. By Ryner Lai, MBBS. Sickle cell disease (SCD) can lead to a host of complications, including pulmonary arterial hypertension (PAH), which can be fatal if left untreated.
Rare Diseases - Rare Disease Advisor
WEBPrimary Central Nervous System Lymphoma. Pulmonary Arterial Hypertension. Sickle Cell Disease. Spinal Muscular Atrophy. Systemic Mastocytosis. Systemic Sclerosis. Transthyretin Amyloid Polyneuropathy. Transthyretin-Mediated Amyloid Cardiomyopathy. Wilson Disease.
Myasthenia Gravis, Overview- Rare Disease Advisor
WEBMyasthenia gravis (MG) is a rare neuromuscular disease but the most common condition affecting the neuromuscular junction (NMJ)in skeletal muscle. 1-3 The hallmark of MG is generalized fatigability and muscle weakness, which develop as a consequence of reduced transmission of electrical impulses across the NMJ. 3 Weakness can affect the ocular, bulbar, respiratory, axial, and limb muscles. 4
Spinal Muscular Atrophy (SMA) - Rare Disease Advisor
WEBSpinal 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.
Sickle Cell Disease - Rare Disease Advisor
WEBUntangling the Link Between Smoking, SCD, and PAH. By Ryner Lai, MBBS. Sickle cell disease (SCD) can lead to a host of complications, including pulmonary arterial hypertension (PAH), which can be fatal if left untreated.
About Us - Rare Disease Advisor
WEBAbout Us. RareDiseaseAdvisor.com is the web’s premier source of news, perspectives, and resources for clinicians who treat patients with rare diseases. The website addresses the unmet informational needs of healthcare professionals seeking the latest insights into the rare diseases they treat through fresh, original, and authoritative content.
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 ...
Sickle Cell Disease Overview - Rare Disease Advisor
WEBSickle cell disease (SCD) is an autosomal recessive disease and the most common genetic disease in the United States, predominantly affecting African Americans at a rate of approximately 1 in 500. One in 12 African Americans carry the recessive gene mutation, and around 300,000 infants are born with the disease each year. 3 The first case of SCD was officially described by Herrick in 1910 ...
Sickle Cell Disease Treatment - Rare Disease Advisor
WEBDec 11, 2023 · Sickle cell disease (SCD) is a rare genetic hematological disorder in which sickle-shaped red blood cells (RBCs) disrupt blood flow in the small vessels. 1,2 Vaso-occlusive events perturb the blood flow, causing painful episodes of ischemia and inflammation. 2 In addition to painful crises, anemia and severe infection are commonly associated with SCD. 1 Penicillin prophylaxis can, however ...
Spinal Muscular Atrophy - Rare Disease Advisor
WEBSpinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder that leads to progressive weakness and loss of movement. SMA results from the degeneration of alpha motor neurons in the anterior horn of the spinal cord. 1,2 Common symptoms include symmetrical muscle weakness, hypotonia, and muscular atrophy, typically of the proximal muscles and the lower extremities. 1
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