Duchenne muscular dystrophy diagnostic study of choice: Difference between revisions

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Latest revision as of 14:56, 15 May 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Genetic analysis is the gold standard test for the diagnosis of Duchenne muscular dystrophy.

Diagnostic Study of Choice

Study of choice

Genetic analysis is the gold standard test for the diagnosis of Duchenne muscular dystrophy.

Investigations:

Among the patients who present with clinical signs of Duchenne muscular dystrophy, the CK level is the most sensitive test for the diagnosis.
Among the patients who present with clinical signs of Duchenne muscular dystrophy, the genetic analysis is the most specific test for diagnosis.

Diagnostic results

The following finding on performing genetic analysis is confirmatory for Duchenne muscular dystrophy:

Different mutations such as deletion, duplication, and etc in dystrophin gene.

Sequence of Diagnostic Studies

The various investigations must be performed in the following order:

History and physical examination
CK level
Genetic analysis
Muscle biopsy (if genetic analysis in negative)

Name of Diagnostic Criteria

Duchenne muscular dystrophy is primarily diagnosed based on clinical presentation and genetic testing. There are no established criteria for the diagnosis of Duchenne muscular dystrophy.

References

Template:WH Template:WS

@@ Line 3: / Line 3: @@
 {{CMG}}; {{AE}} {{Fs}}
 == Overview ==
+[[Genetic analysis]] is the gold standard test for the [[diagnosis]] of Duchenne [[muscular dystrophy]].
 == Diagnostic Study of Choice ==
 === Study of choice ===
-[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
+[[Genetic analysis]] is the gold standard test for the [[diagnosis]] of Duchenne [[muscular dystrophy]].
-OR
-The following result of [gold standard test] is confirmatory of [disease name]:
-* [Result 1]
-* [Result 2]
-OR
-[Name of the investigation] must be performed when:
-* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
-* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
-OR
-[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
-OR
-The diagnostic study of choice for [disease name] is [name of the investigation].
-OR
-There is no single diagnostic study of choice for the diagnosis of [disease name].
-OR
-There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
-OR
-[Disease name] is primarily diagnosed based on the clinical presentation.
-OR
 Investigations:
-* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
+* Among the [[patients]] who present with clinical [[signs]] of Duchenne [[muscular dystrophy]], the [[Creatine kinase|CK]] level is the most sensitive test for the [[diagnosis]].
-* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
+* Among the [[patients]] who present with clinical [[signs]] of Duchenne [[muscular dystrophy]], the [[genetic analysis]] is the most specific test for [[diagnosis]].
-* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
-==== The comparison of various diagnostic studies for [disease name] ====
-{|
-|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
-|-
-! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-|-
-! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-|}
-<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 ===== Diagnostic results =====
-The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
+The following finding on performing [[genetic analysis]] is confirmatory for Duchenne [[muscular dystrophy]]:
-* [Finding 1]
+* Different [[mutations]] such as deletion, duplication, and etc in [[dystrophin]] gene.
-* [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]
+* [[History and Physical examination|History and physical examination]]
-* [2nd investigation]
+* [[Creatine kinase|CK]] level
+* [[Genetic analysis]]
+* [[Muscle biopsy]] (if [[genetic analysis]] in negative)
 === 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.'''
+Duchenne [[muscular dystrophy]] is primarily diagnosed based on clinical presentation and [[genetic testing]]. There are no established criteria for the [[diagnosis]] of Duchenne [[muscular dystrophy]].
-[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].
 ==References==