Primary ciliary dyskinesia
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Notes
Primary ciliary dyskinesia
Genetics
Genetic disorders
Achondroplasia
Alagille syndrome (NORD)
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Polycystic kidney disease
Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Alpha-thalassemia
Beta-thalassemia
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Hemochromatosis
Krabbe disease
Leukodystrophy
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Phenylketonuria (NORD)
Polycystic kidney disease
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Wilson disease
Cri du chat syndrome
Williams syndrome
Angelman syndrome
Prader-Willi syndrome
Beckwith-Wiedemann syndrome
Mitochondrial myopathy
Klinefelter syndrome
Turner syndrome
Fragile X syndrome
Friedreich ataxia
Huntington disease
Myotonic dystrophy
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Alport syndrome
Fragile X syndrome
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Lesch-Nyhan syndrome
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
X-linked agammaglobulinemia
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Assessments
Primary ciliary dyskinesia
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USMLE® Step 1 questions
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High Yield Notes
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Primary ciliary dyskinesia
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Questions
USMLE® Step 1 style questions USMLE
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External References
First Aid
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2016
Bronchiectasis
Kartagener syndrome p. 47, 714
Ectopic pregnancy p. NaN
Kartagener syndrome p. 47
Infertility
Kartagener syndrome p. 47, 714
Kartagener syndrome p. 47, 286
infertility with p. 659
obstructive lung disease p. 700
presentation p. 714
Sinusitis
Kartagener syndrome p. 47, 714
Summary
Primary ciliary dyskinesia (PCD) also called kartagener syndrome or immotile cilia syndrome is a rare genetic disorder characterized by impairment of the action of cilia lining the respiratory tract, Eustachian tube, fallopian tube, as well as in the flagella of sperm cells. This can lead to recurrent respiratory infections, chronic cough, sinusitis, otitis media and infertility. There is no cure for PCD, but treatments can help manage symptoms and prevent complications.
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