About The Medical Condition Canavan Disease, Sporadic Form
Find the definition of the medical term Canavan Disease, Sporadic Form. Canavan Disease, Sporadic Form defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Canavan Disease, Sporadic Form
Canavan Disease, Sporadic Form Medical Condition |
---|
What's The Definition Of The Medical Condition Canavan Disease, Sporadic Form?
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Growth Hormone, Pituitary ‐ A small peptide hormone released by the anterior pituitary under…
- Wrongful Life ‐ In civil law a cause of action which alleges that a defendant…
- Osteogenic Sarcoma ‐ A sarcoma originating in bone-forming cells, affecting the ends…
- Mite, Harvest ‐ The larva of MITES of the genus Trombicula which attack humans…
- Bromouracil Deoxyriboside ‐ A nucleoside that substitutes for thymidine in DNA and thus acts…
- Remarriage ‐ The social institution involving legal and/or religious sanction…
- Vasoconstrictor Agents, Nasal ‐ Drugs designed to treat inflammation of the nasal passages, generally…
- Modern Histories, Early (Medicine) ‐ The period of the history of medicine from 1451 through 1600…
- Polymethyl Methacrylate, Isostatic ‐ Polymerized methyl methacrylate monomers which are used as sheets,…
- Myocardial Depressant Factor ‐ A low molecular weight peptide of about 800-1000 having a negative…