Infantile neuroaxonal dystrophy: Difference between revisions
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{{Infobox medical condition | |||
[[File:autorecessive.svg| | | name = Infantile neuroaxonal dystrophy | ||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = [[Autosomal recessive]] pattern | |||
| synonyms = INAD, Seitelberger disease | |||
| specialty = [[Neurology]] | |||
| symptoms = [[Developmental delay]], [[hypotonia]], [[ataxia]], [[dementia]] | |||
| onset = Infancy | |||
| duration = Progressive | |||
| causes = Mutations in the [[PLA2G6]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[MRI]] | |||
| differential = [[Metachromatic leukodystrophy]], [[Krabbe disease]] | |||
| treatment = Supportive care | |||
| prognosis = Poor, with progressive neurological decline | |||
| frequency = Rare | |||
}} | |||
'''Infantile Neuroaxonal Dystrophy''' (INAD) is a rare, inherited neurodegenerative disorder that primarily affects infants and young children. It is characterized by progressive motor and cognitive decline, leading to severe disability and early death. | '''Infantile Neuroaxonal Dystrophy''' (INAD) is a rare, inherited neurodegenerative disorder that primarily affects infants and young children. It is characterized by progressive motor and cognitive decline, leading to severe disability and early death. | ||
=== Etiology === | === Etiology === | ||
INAD is caused by mutations in the [[PLA2G6]] gene, which encodes an enzyme involved in the metabolism of phospholipids. This gene is located on chromosome 22. The disorder follows an [[autosomal recessive]] inheritance pattern, meaning that both copies of the gene in each cell have mutations. | INAD is caused by mutations in the [[PLA2G6]] gene, which encodes an enzyme involved in the metabolism of phospholipids. This gene is located on chromosome 22. The disorder follows an [[autosomal recessive]] inheritance pattern, meaning that both copies of the gene in each cell have mutations. | ||
=== Pathophysiology === | === Pathophysiology === | ||
The mutations in the PLA2G6 gene lead to the accumulation of abnormal deposits in the [[neurons]] and other cells of the nervous system. These deposits, known as spheroid bodies, disrupt normal cellular function and lead to the degeneration of nerve fibers, particularly in the [[brain]] and [[spinal cord]]. | The mutations in the PLA2G6 gene lead to the accumulation of abnormal deposits in the [[neurons]] and other cells of the nervous system. These deposits, known as spheroid bodies, disrupt normal cellular function and lead to the degeneration of nerve fibers, particularly in the [[brain]] and [[spinal cord]]. | ||
=== Clinical Features === | === Clinical Features === | ||
Symptoms of INAD typically begin between 6 months and 3 years of age. Early signs include: | Symptoms of INAD typically begin between 6 months and 3 years of age. Early signs include: | ||
| Line 18: | Line 29: | ||
* [[Ataxia]] (lack of voluntary coordination of muscle movements) | * [[Ataxia]] (lack of voluntary coordination of muscle movements) | ||
* [[Optic atrophy]] leading to vision loss | * [[Optic atrophy]] leading to vision loss | ||
As the disease progresses, affected children may develop: | As the disease progresses, affected children may develop: | ||
* [[Spasticity]] | * [[Spasticity]] | ||
* [[Seizures]] | * [[Seizures]] | ||
* [[Dementia]] | * [[Dementia]] | ||
=== Diagnosis === | === Diagnosis === | ||
Diagnosis of INAD is based on clinical evaluation, genetic testing for mutations in the PLA2G6 gene, and neuroimaging studies such as [[MRI]] that may show characteristic changes in the brain. A [[nerve biopsy]] may reveal the presence of spheroid bodies. | Diagnosis of INAD is based on clinical evaluation, genetic testing for mutations in the PLA2G6 gene, and neuroimaging studies such as [[MRI]] that may show characteristic changes in the brain. A [[nerve biopsy]] may reveal the presence of spheroid bodies. | ||
=== Management === | === Management === | ||
There is currently no cure for INAD, and treatment is primarily supportive. Management focuses on alleviating symptoms and improving quality of life. This may include: | There is currently no cure for INAD, and treatment is primarily supportive. Management focuses on alleviating symptoms and improving quality of life. This may include: | ||
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* Medications to control seizures | * Medications to control seizures | ||
* Nutritional support | * Nutritional support | ||
=== Prognosis === | === Prognosis === | ||
The prognosis for children with INAD is poor. The disease progresses rapidly, and most affected individuals do not survive beyond their first decade of life. | The prognosis for children with INAD is poor. The disease progresses rapidly, and most affected individuals do not survive beyond their first decade of life. | ||
== See also == | |||
== | |||
* [[Neurodegenerative disease]] | * [[Neurodegenerative disease]] | ||
* [[Autosomal recessive disorder]] | * [[Autosomal recessive disorder]] | ||
* [[PLA2G6-associated neurodegeneration]] | * [[PLA2G6-associated neurodegeneration]] | ||
{{Neurodegenerative diseases}} | {{Neurodegenerative diseases}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurodegenerative disorders]] | [[Category:Neurodegenerative disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 00:59, 8 April 2025
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| Infantile neuroaxonal dystrophy | |
|---|---|
| File:Autorecessive.svg | |
| Synonyms | INAD, Seitelberger disease |
| Pronounce | N/A |
| Specialty | Neurology |
| Symptoms | Developmental delay, hypotonia, ataxia, dementia |
| Complications | N/A |
| Onset | Infancy |
| Duration | Progressive |
| Types | N/A |
| Causes | Mutations in the PLA2G6 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, MRI |
| Differential diagnosis | Metachromatic leukodystrophy, Krabbe disease |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Poor, with progressive neurological decline |
| Frequency | Rare |
| Deaths | N/A |
Infantile Neuroaxonal Dystrophy (INAD) is a rare, inherited neurodegenerative disorder that primarily affects infants and young children. It is characterized by progressive motor and cognitive decline, leading to severe disability and early death.
Etiology[edit]
INAD is caused by mutations in the PLA2G6 gene, which encodes an enzyme involved in the metabolism of phospholipids. This gene is located on chromosome 22. The disorder follows an autosomal recessive inheritance pattern, meaning that both copies of the gene in each cell have mutations.
Pathophysiology[edit]
The mutations in the PLA2G6 gene lead to the accumulation of abnormal deposits in the neurons and other cells of the nervous system. These deposits, known as spheroid bodies, disrupt normal cellular function and lead to the degeneration of nerve fibers, particularly in the brain and spinal cord.
Clinical Features[edit]
Symptoms of INAD typically begin between 6 months and 3 years of age. Early signs include:
- Developmental delay
- Loss of previously acquired motor skills
- Hypotonia (decreased muscle tone)
- Ataxia (lack of voluntary coordination of muscle movements)
- Optic atrophy leading to vision loss
As the disease progresses, affected children may develop:
Diagnosis[edit]
Diagnosis of INAD is based on clinical evaluation, genetic testing for mutations in the PLA2G6 gene, and neuroimaging studies such as MRI that may show characteristic changes in the brain. A nerve biopsy may reveal the presence of spheroid bodies.
Management[edit]
There is currently no cure for INAD, and treatment is primarily supportive. Management focuses on alleviating symptoms and improving quality of life. This may include:
- Physical therapy to maintain mobility
- Medications to control seizures
- Nutritional support
Prognosis[edit]
The prognosis for children with INAD is poor. The disease progresses rapidly, and most affected individuals do not survive beyond their first decade of life.
See also[edit]
| Neurodegenerative diseases | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
This Neurodegenerative disease related article is a stub.
|
