Cystic Fibrosis Pathophysiology - Rare Disease Advisor
WEBCystic fibrosis (CF) is the most frequently occurring rare genetic disease among Caucasians, affecting more than 30,000 individuals in the United States and 80,000 globally. 1,2 Inheritance is autosomal recessive. CF is characterized by the secretion of thick, viscous mucus, which accumulates and causes dysfunction in multiple organs, …
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 ...
Pompe Disease History - 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 …
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 ...
Spinal Muscular Atrophy Pathophysiology - Rare Disease Advisor
WEBSpinal muscular atrophy (SMA) is a monogenic neurodegenerative disease characterized by loss of alpha motor neurons, which results in muscle atrophy and weakness. 1,2 Nearly 95% of SMA cases result from homozygous deletions in the survival motor neuron 1 (SMN1) gene. 2 Point mutations of SMN1 also can occur 3 and are responsible for SMA ...
Mestinon (Pyridostigmine Bromide) - Rare Disease Advisor
WEBFeb 15, 2022 · Mestinon ® (pyridostigmine bromide) is a cholinesterase inhibitor that is administered orally. 1 It prevents the acetylcholine neurotransmitter from being hydrolyzed in the synaptic cleft, thereby increasing the number of interactions between acetylcholine and the acetylcholine receptor in the neuromuscular junction. Pyridostigmine does not …
Wilson Disease Diagnosis - Rare Disease Advisor
WEBWilson disease is a rare, autosomal recessive, inherited condition affecting copper metabolism that is characterized by the excessive accumulation of copper in the body’s tissues, especially the liver, brain, and eyes. Without treatment, this disorder can become fatal, necessitating early and accurate diagnosis for optimal patient outcomes. 1.
Hemophilia Pathophysiology - Rare Disease Advisor
WEBOct 29, 2023 · Hemophilia is a rare, inherited, X-linked hemorrhagic disorder that results from a deficiency or dysfunction of coagulation protein factor VIII (FVIII) or factor IX (FIX). Deficiency or dysfunction of FVIII is associated with hemophilia A, and deficiency or dysfunction of FIX is associated with hemophilia B. 1,2.
FDA, Industry: 2024 Will Be 'Breakout Year' for Gene Therapy …
WEBJanuary 10, 2024. US and European regulators could approve up to 17 gene therapies this year, with a top official at the US Food and Drug Administration (FDA) predicting that 2024 will be a “breakout year” in addressing key challenges to developing cell and gene therapies—especially for rare disorders. That upbeat forecast came during the ...
Spinal Muscular Atrophy Life Expectancy - Rare Disease Advisor
WEBSpinal muscular atrophy (SMA) is one of the most common genetic conditions affecting children and the No. 1 genetic cause of infant mortality. 1 Spinal muscular atrophy life expectancy is highly dependent on the SMA type.. Spinal Muscular Atrophy Life Expectancy by Type. The 5 types of SMA are classified according to the time of symptom onset. …