Search results
Results from the WOW.Com Content Network
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
[5]: 589 The disease is named after Italian dermatologist Vittorio Mibelli (1860-1910). [ 6 ] Angiokeratoma of Fordyce (also known as "Angiokeratoma of the scrotum and vulva," though not to be confused with Fordyce's spots ) [ 5 ] is a skin condition characterized by red to blue papules on the scrotum or vulva.
Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the ...
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
4D Molecular Therapeutics Inc (NASDAQ: FDMT) has posted updated interim data from the Phase 1/2 trial of 4D-310 in Fabry disease at the 18th Annual WORLDSymposium. Following 4D-310 infusion, mean ...
Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
The virus is commonly known as Fifth Disease “because it was the fifth in a list of common childhood rash illnesses, which also included measles, scarlet fever, rubella and roseola,” says ...