Search results
Results From The WOW.Com Content Network
Canavan's disease, Van Bogaert-Bertrand type, Aspartoacylase deficiency: Magnetic resonance imaging scans showing dysmyelination, a possible indicator of Canavan's disease: Specialty: Neurology: Symptoms: Hypotonia, macrocephaly, loss of vision, motor reflex defects, difficulties in breathing and swallowing: Usual onset: 3-6 months of age ...
Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive [1] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. [2] It is one of the most common degenerative cerebral diseases of infancy. [3]
While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset. Treatment options are limited, although hematopoietic stem cell transplantations using bone marrow or cord blood seem to help in certain leukodystrophy types, while ...
The plaintiffs in this case were a group of parents of children who had Canavan disease and three non-profit organizations who developed a confidential Canavan disease registry and database. [1] The parents provided their children's tissue for research on the disease and the non-profit groups aided in the identification of other affected ...
Katherine Canavan, United States diplomat and career foreign service officer; Matt Canavan, Australian Federal MP; Michael Noel Canavan, Irish police officer, recipient of the Scott Medal; Myrtelle Canavan, American pathologist who described Canavan disease in 1931; Niall Canavan, Irish footballer; Pascal Canavan, Tyrone Gaelic footballer
Myrtelle May Moore Canavan [1] (June 24, 1879 – August 4, 1953) was an American physician and medical researcher. She was one of the first female pathologists and is best known for publishing a description of Canavan disease in 1931.
The current terminology and diagnostic criteria for the disease were established at a 2007 conference of experts and set forth in a position paper. [38] This Second Consensus Statement defines two categories of MSA, based on the predominant symptoms of the disease at the time of evaluation. These are:
Clinical progression of the disease is variable, with lung transplantation required in severe cases. Susceptibility to infections can be drastically reduced by an early diagnosis. Treatment with various chest physiotherapy techniques has been observed to reduce the incidence of lung infection and to slow the progression of bronchiectasis ...