Primary ciliary dyskinesia physical examination: Difference between revisions

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==Overview==
==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
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.
Physical examination of patients with primary ciliary dyskinesia could show digital clubbing incase of recurrent sinus or chronic lung infections.
 
OR
 
Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


===Appearance of the Patient===
===Appearance of the Patient===
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*Prolonged nasal congestion
*Prolonged nasal congestion
*Recurrent sinus infections
*Recurrent sinus infections
*Mucopurulent nasal discharge
*Muco purulent nasal discharge
*Nasal obstruction
*Nasal obstruction
*Mouth breathing and halitosis
*Mouth breathing and halitosis
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===Neck===
===Neck===


*Neck examination of patients with [disease name] is usually normal.
*Neck examination of patients with primary ciliary dyskinesia 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===
===Lungs===
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*Recurrent pneumonia
*Recurrent pneumonia
*In the case of atelectasis absent breath sounds
*In the case of atelectasis absent breath sounds
*Retractions  
*Retractions
*Hypoxia
*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>
*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>
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===Abdomen===
===Abdomen===


*Abdominal examination of patients with [disease name] is usually normal.
*Abdominal examination may demonstrate spleen and liver in the opposite sides incase of situs inversus.
 
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===
===Back===


*Back examination of patients with [disease name] is usually normal.
*Back examination of patients with primary ciliary dyskinesia is usually normal.


OR
*
 
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===


*Genitourinary examination of patients with [disease name] is usually normal.
*primary ciliary dyskinesia may present with infertility in both male and females.
 
OR
 
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
===Neuromuscular===


*Neuromuscular examination of patients with [disease name] is usually normal.
*Neuromuscular examination of patients with primary ciliary dyskinesia 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===
===Extremities===


*Extremities examination of patients with [disease name] is usually normal.
*Extremities examination of patients with primary ciliary dyskinesia could demonstrate
 
OR


*[[Clubbing]]
[[Clubbing]]
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
==References==

Latest revision as of 15:20, 4 September 2021

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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

  1. ↑ "Primary Ciliary Dyskinesia | NHLBI, NIH".
  2. ↑ "Primary Ciliary Dyskinesia | NHLBI, NIH".


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