Scoliosis pathophysiology: Difference between revisions
No edit summary |
|||
| Line 40: | Line 40: | ||
In the case of the most common form of scoliosis, Adolescent Idiopathic Scoliosis, there is a clear [[Mendelian inheritance]] but with incomplete [[penetrance]]. | In the case of the most common form of scoliosis, Adolescent Idiopathic Scoliosis, there is a clear [[Mendelian inheritance]] but with incomplete [[penetrance]]. | ||
In April 2007, researchers at Texas Scottish Rite Hospital for Children identified the first gene associated with idiopathic scoliosis, CHD7. The medical breakthrough was the result of a 10-year study and is outlined in the May 2007 issue of the American Journal of Human Genetics.<ref name=tsrhc>Texas Scottish Rite Hospital for Children Research: [http://www.tsrhc.org/default.asp?contentID=39 Scoliosis Research] </ref> | In April 2007, researchers at Texas Scottish Rite Hospital for Children identified the first gene associated with idiopathic scoliosis, CHD7. The medical breakthrough was the result of a 10-year study and is outlined in the May 2007 issue of the American Journal of Human Genetics.<ref name="tsrhc">Texas Scottish Rite Hospital for Children Research: [http://www.tsrhc.org/default.asp?contentID=39 Scoliosis Research] </ref> | ||
=== Associated conditions === | === Associated conditions === | ||
| Line 54: | Line 54: | ||
* [[Connective tissue disorder]] | * [[Connective tissue disorder]] | ||
* Craniospinal axis disorders (''e.g.'', [[syringomyelia]], [[Arnold-Chiari malformation]]). | * Craniospinal axis disorders (''e.g.'', [[syringomyelia]], [[Arnold-Chiari malformation]]). | ||
* Roussy-levy disease | |||
* Charcot-marie-tooth disease | |||
* Duchenne muscular dystrophy | |||
* Limb girdle dystrophy | |||
* Arthrogyposis | |||
However, the majority of people with adolescent scoliosis have no pain or other abnormalities. | However, the majority of people with adolescent scoliosis have no pain or other abnormalities. | ||
Revision as of 20:01, 2 May 2018
|
Scoliosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Scoliosis pathophysiology On the Web |
|
American Roentgen Ray Society Images of Scoliosis pathophysiology |
|
Risk calculators and risk factors for Scoliosis pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Overview
Pathophysiology
Genetics
In the case of the most common form of scoliosis, Adolescent Idiopathic Scoliosis, there is a clear Mendelian inheritance but with incomplete penetrance.
In April 2007, researchers at Texas Scottish Rite Hospital for Children identified the first gene associated with idiopathic scoliosis, CHD7. The medical breakthrough was the result of a 10-year study and is outlined in the May 2007 issue of the American Journal of Human Genetics.[1]
Associated conditions
Scoliosis is sometimes associated with other conditions such as
- Cerebral palsy
- Spinal muscular atrophy
- Familial dysautonomia
- CHARGE syndrome
- Friedreich's ataxia
- Spina bifida
- Marfan's syndrome
- Neurofibromatosis
- Connective tissue disorder
- Craniospinal axis disorders (e.g., syringomyelia, Arnold-Chiari malformation).
- Roussy-levy disease
- Charcot-marie-tooth disease
- Duchenne muscular dystrophy
- Limb girdle dystrophy
- Arthrogyposis
However, the majority of people with adolescent scoliosis have no pain or other abnormalities.
Pathophysiology
Pathogenesis
- The exact pathogenesis of [disease name] is not fully understood.
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
- [Disease name] is transmitted in [mode of genetic transmission] pattern.
- Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
- The development of [disease name] is the result of multiple genetic mutations.
Associated Conditions
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Texas Scottish Rite Hospital for Children Research: Scoliosis Research