Progeria diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Diagnostic Study of Choice
- There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS), but Hutchinson-Gilford progeria syndrome (HGPS) can be diagnosed based on clinical presentation and genetic testing of the gene LMNA gene (c.1824C>T[p.Gly608Gly]).
- The diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) is based on the clinical presentation, which include the following:
- Failure to thrive in the first year of life
- Very peculiar facial presentation which include:
- Micrognathia(Jaw is undersized)
- Prominent eyes(protruding eyes)
- Circumoral cyanosis(blue discoloration around the mouth)
- Alopecia
- Prominent scalp veins
- Sclerotic skin changes
- Joint contractures
- Decreased range of motion in the joints
| Test | Sensitivity | Specificity |
|---|---|---|
| Test 1 | ...% | ...% |
| Test 2 | ...% | ...% |
[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity
Diagnostic results
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
- [Finding 1]
- [Finding 2]
Sequence of Diagnostic Studies
The [name of investigation] must be performed when:
- The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
- A positive [test] is detected in the patient, to confirm the diagnosis.
OR
The various investigations must be performed in the following order:
- [Initial investigation]
- [2nd investigation]
Name of Diagnostic Criteria
It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
OR
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
OR
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
- Criteria 1
- Criteria 2
- Criteria 3
OR
IF there are clear, established diagnostic criteria
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
IF there are no established diagnostic criteria
There are no established criteria for the diagnosis of [disease name].