Primary ciliary dyskinesia physical examination: Difference between revisions

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Latest revision as of 15:20, 4 September 2021

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S [2]

Overview

Primary ciliary dyskinesia has no characteristic physical examination findings, however, any clue to recurrent sinus infections or respiratory distress should raise concern for diagnosing primary ciliary dyskinesia.

Physical Examination

Physical examination of patients with primary ciliary dyskinesia could show digital clubbing incase of recurrent sinus or chronic lung infections.

Appearance of the Patient

Patients with primary ciliary dyskinesia usually appear normal in appearance. Clinical manifestations may vary from patient to patient, hence all patients present differently.

Vital Signs

Vital signs are normal in patients with primary ciliary dyskinesia.

Skin

Skin examination of patients with primary ciliary dyskinesia is usually normal.

HEENT

HEENT examination of patients with primary ciliary dyskinesia is as following,

Sinus and paranasal sinus
Prolonged nasal congestion
Recurrent sinus infections
Muco purulent nasal discharge
Nasal obstruction
Mouth breathing and halitosis
Nasal polyp
Halitosis

Ears
Inflammation of the tympanic membrane with possible perforation and purulent discahrege
Conductive hearing loss
Otitis media^[1]

Neck

Neck examination of patients with primary ciliary dyskinesia is usually normal.

Lungs

Pulmonary examination of patients with primary ciliary dyskinesia could demonstrate.

Respiratory distress in newborns
Chronic cough
Recurrent pneumonia
In the case of atelectasis absent breath sounds
Retractions
Hypoxia
Wheeze^[2]

Heart

In the case of dextrocardia apex impulse could be felt on the right side in patients with primary ciliary dyskinesia.

Abdomen

Abdominal examination may demonstrate spleen and liver in the opposite sides incase of situs inversus.

Back

Back examination of patients with primary ciliary dyskinesia is usually normal.

Genitourinary

primary ciliary dyskinesia may present with infertility in both male and females.

Neuromuscular

Neuromuscular examination of patients with primary ciliary dyskinesia is usually normal.

Extremities

Extremities examination of patients with primary ciliary dyskinesia could demonstrate

Clubbing

References

Template:WH Template:WS

[1] "Primary Ciliary Dyskinesia | NHLBI, NIH".

[2] "Primary Ciliary Dyskinesia | NHLBI, NIH".

[1]

[2]

@@ Line 5: / Line 5: @@
 ==Overview==
-Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
+Primary ciliary dyskinesia has no characteristic physical examination findings, however, any clue to recurrent sinus infections or respiratory distress should raise concern for diagnosing primary ciliary dyskinesia.
-OR
+==Physical Examination==
+Physical examination of patients with primary ciliary dyskinesia could show digital clubbing incase of recurrent sinus or chronic lung infections.
-Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
+===Appearance of the Patient===
-OR
+*Patients with primary ciliary dyskinesia usually appear normal in appearance. Clinical manifestations may vary from patient to patient, hence all patients present differently.
-The presence of [finding(s)] on physical examination is diagnostic of [disease name].
+===Vital Signs===
+Vital signs are normal in patients with primary ciliary dyskinesia.
-OR
+===Skin===
-The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
+*Skin examination of patients with primary ciliary dyskinesia is usually normal.
-==Physical Examination==
+===HEENT===
-Physical examination of patients with [disease name] is usually normal.
-OR
+*HEENT examination of patients with primary ciliary dyskinesia is as following,
-Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
+*Sinus and paranasal sinus
+*Prolonged nasal congestion
+*Recurrent sinus infections
+*Muco purulent nasal discharge
+*Nasal obstruction
+*Mouth breathing and halitosis
+*Nasal polyp
+*Halitosis
-OR
+*Ears
+*Inflammation of the tympanic membrane with possible perforation and purulent discahrege
+*Conductive hearing loss
+*Otitis media<ref>{{cite web |url=https://www.nhlbi.nih.gov/health-topics/primary-ciliary-dyskinesia |title=Primary Ciliary Dyskinesia &#124; NHLBI, NIH |format= |work= |accessdate=}}</ref>
-The presence of [finding(s)] on physical examination is diagnostic of [disease name].
+===Neck===
-OR
+*Neck examination of patients with primary ciliary dyskinesia is usually normal.
-The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
+===Lungs===
-===Appearance of the Patient===
+*Pulmonary examination of patients with primary ciliary dyskinesia could demonstrate.
-*Patients with [disease name] usually appear [general appearance].
-===Vital Signs===
+*Respiratory distress in newborns
+*Chronic cough
+*Recurrent pneumonia
+*In the case of atelectasis absent breath sounds
+*Retractions
+*Hypoxia
+*Wheeze<ref>{{cite web |url=https://www.nhlbi.nih.gov/health-topics/primary-ciliary-dyskinesia |title=Primary Ciliary Dyskinesia &#124; NHLBI, NIH |format= |work= |accessdate=}}</ref>
-*High-grade / low-grade fever
+===Heart===
-*[[Hypothermia]] / hyperthermia may be present
-*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
-*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
-*Tachypnea / bradypnea
-*Kussmal respirations may be present in _____ (advanced disease state)
-*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
-*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]
-===Skin===
+*In the case of dextrocardia apex impulse could be felt on the right side in patients with primary ciliary dyskinesia.
-* Skin examination of patients with [disease name] is usually normal.
-OR
-*[[Cyanosis]]
-*[[Jaundice]]
-* [[Pallor]]
-* Bruises
-<gallery widths="150px">
+===Abdomen===
-UploadedImage-01.jpg | Description {{dermref}}
+*Abdominal examination may demonstrate spleen and liver in the opposite sides incase of situs inversus.
-UploadedImage-02.jpg | Description {{dermref}}
-</gallery>
+===Back===
-===HEENT===
+*Back examination of patients with primary ciliary dyskinesia is usually normal.
-* HEENT examination of patients with [disease name] is usually normal.
-OR
-* Abnormalities of the head/hair may include ___
-* Evidence of trauma
-* Icteric sclera
-* [[Nystagmus]]
-* Extra-ocular movements may be abnormal
-*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
-*Ophthalmoscopic exam may be abnormal with findings of ___
-* Hearing acuity may be reduced
-*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
-*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
-* [[Exudate]] from the ear canal
-* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
-*Inflamed nares / congested nares
-* [[Purulent]] exudate from the nares
-* Facial tenderness
-* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae
-===Neck===
+*
-* Neck examination of patients with [disease name] is usually normal.
-OR
-*[[Jugular venous distension]]
-*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
-*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
-*[[Thyromegaly]] / thyroid nodules
-*[[Hepatojugular reflux]]
-===Lungs===
+===Genitourinary===
-* Pulmonary examination of patients with [disease name] is usually normal.
-OR
-* Asymmetric chest expansion OR decreased chest expansion
-*Lungs are hyporesonant OR hyperresonant
-*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
-*Rhonchi
-*Vesicular breath sounds OR distant breath sounds
-*Expiratory wheezing OR inspiratory wheezing with normal OR delayed expiratory phase
-*[[Wheezing]] may be present
-*[[Egophony]] present/absent
-*[[Bronchophony]] present/absent
-*Normal/reduced [[tactile fremitus]]
-===Heart===
+*primary ciliary dyskinesia may present with infertility in both male and females.
-* Cardiovascular examination of patients with [disease name] is usually normal.
-OR
-*Chest tenderness upon palpation
-*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
-*[[Heave]] / [[thrill]]
-*[[Friction rub]]
-*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
-*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
-*[[Heart sounds#Third heart sound S3|S3]]
-*[[Heart sounds#Fourth heart sound S4|S4]]
-*[[Heart sounds#Summation Gallop|Gallops]]
-*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the stethoscope
-===Abdomen===
+===Neuromuscular===
-* Abdominal examination of patients with [disease name] is usually normal.
-OR
-*[[Abdominal distension]]
-*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
-*[[Rebound tenderness]] (positive Blumberg sign)
-*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
-*Guarding may be present
-*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
-*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test
-===Back===
+*Neuromuscular examination of patients with primary ciliary dyskinesia is usually normal.
-* Back examination of patients with [disease name] is usually normal.
-OR
-*Point tenderness over __ vertebrae (e.g. L3-L4)
-*Sacral edema
-*Costovertebral angle tenderness bilaterally/unilaterally
-*Buffalo hump
-===Genitourinary===
+===Extremities===
-* Genitourinary examination of patients with [disease name] is usually normal.
-OR
-*A pelvic/adnexal mass may be palpated
-*Inflamed mucosa
-*Clear/(color), foul-smelling/odorless penile/vaginal discharge
-===Neuromuscular===
+*Extremities examination of patients with primary ciliary dyskinesia could demonstrate
-* Neuromuscular examination of patients with [disease name] is usually normal.
-OR
-*Patient is usually oriented to persons, place, and time
-* Altered mental status
-* Glasgow coma scale is ___ / 15
-* Clonus may be present
-* Hyperreflexia / hyporeflexia / areflexia
-* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
-* Muscle rigidity
-* Proximal/distal muscle weakness unilaterally/bilaterally
-* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
-*Unilateral/bilateral upper/lower extremity weakness
-*Unilateral/bilateral sensory loss in the upper/lower extremity
-*Positive straight leg raise test
-*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
-*Positive/negative Trendelenburg sign
-*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
-*Normal finger-to-nose test / Dysmetria
-*Absent/present dysdiadochokinesia (palm tapping test)
-===Extremities===
+[[Clubbing]]
-* Extremities examination of patients with [disease name] is usually normal.
-OR
-*[[Clubbing]]
-*[[Cyanosis]]
-*Pitting/non-pitting [[edema]] of the upper/lower extremities
-*Muscle atrophy
-*Fasciculations in the upper/lower extremity
 ==References==