Prab: CSV import

2025-04-06T00:33:15Z

CSV import

← Older revision		Revision as of 00:33, 6 April 2025
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			{{SI}}
			{{Infobox medical condition
			\| name = Canavan disease
			\| image = [[File:Canavan_PIN_Infographic.png\|250px]]
			\| caption = Infographic on Canavan disease
			\| synonyms = [[Aspartoacylase deficiency]], [[Spongy degeneration of the central nervous system]]
			\| pronounce =
			\| specialty = [[Neurology]], [[Genetics]]
			\| symptoms = [[Developmental delay]], [[Hypotonia]], [[Macrocephaly]], [[Seizures]]
			\| onset = Infancy
			\| duration = Lifelong
			\| types =
			\| causes = [[Genetic mutation]] in the [[ASPA gene]]
			\| risks =
			\| diagnosis = [[Genetic testing]], [[MRI]]
			\| differential = [[Leukodystrophy]], [[Alexander disease]], [[Krabbe disease]]
			\| prevention = Genetic counseling
			\| treatment = Supportive care
			\| medication =
			\| prognosis = Poor
			\| frequency = Rare
			\| deaths =
			}}
	Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.		Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
	~~[[File:Canavan PIN Infographic.png\|alt=Canavan disease infographic\|thumb\|Canavan disease infographic]]~~
	== Leukodystrophy ==		== Leukodystrophy ==
	Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies.		Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies.

	== Pathophysiology ==		== Pathophysiology ==
	Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. ~~Myelin~~ sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells. In Canavan disease, many oligodendrocytes do not mature ~~and~~ instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function.		Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. ¬†Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells. ¬†In Canavan disease, many oligodendrocytes do not mature ¬†and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function. ¬†

	== Cause ==		== Cause ==
	Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate.		Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate.

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	title='''{{PAGENAME}}'''		title='''{{PAGENAME}}'''
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	== Symptoms ==		== Symptoms ==
	Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly. ~~Symptoms~~ include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic.		Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly. ¬†Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic.

	== Genetics ==		== Genetics ==
	Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians.		Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians.

	== Diagnosis ==		== Diagnosis ==
	Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase.		Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase.
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	== Inheritance ==		== Inheritance ==
	Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25 percent) chance with each pregnancy that the child will be affected with Canavan disease.		Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25 percent) chance with each pregnancy that the child will be affected with Canavan disease.

	== Prognosis ==		== Prognosis ==
	The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.		The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.

	== Treatment ==		== Treatment ==
	Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.		Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.

	{{Lipid storage disorders}}		{{Lipid storage disorders}}
	{{CNS diseases of the nervous system}}		{{CNS diseases of the nervous system}}

Prab at 23:41, 27 April 2020

2020-04-27T23:41:52Z

New page

Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
[[File:Canavan PIN Infographic.png|alt=Canavan disease infographic|thumb|Canavan disease infographic]]
== Leukodystrophy ==
Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies.

== Pathophysiology ==
Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells. In Canavan disease, many oligodendrocytes do not mature and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function.

== Cause ==
Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate.

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title='''{{PAGENAME}}'''
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== Symptoms ==
Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly. Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic.

== Genetics ==
Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians.

== Diagnosis ==
Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase.
[[File:U fibres big.JPG|alt=Demyelinating disorder|thumb|Demyelinating disorder]]
== Inheritance ==
Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25 percent) chance with each pregnancy that the child will be affected with Canavan disease.

== Prognosis ==
The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.

== Treatment ==
Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.

{{Lipid storage disorders}}
{{CNS diseases of the nervous system}}
{{DEFAULTSORT:Canavan Disease}}
[[Category:Autosomal recessive disorders]]
[[Category:Leukodystrophies]]
[[Category:Lipid storage disorders]]
[[Category:Ashkenazi Jews topics]]
[[Category:Demyelinating diseases of CNS]]
[[Category:Neurological disorders in children]]
[[Category:Rare diseases]]
[[Category:Disorders causing seizures]]

Canavan disease - Revision history

Prab: CSV import

Prab at 23:41, 27 April 2020