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Absent inner dynein arms

MedGen UID:
868589
Concept ID:
C4022988
Finding
HPO: HP:0012257

Definition

Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [from HPO]

Conditions with this feature

Primary ciliary dyskinesia 13
MedGen UID:
413399
Concept ID:
C2750790
Disease or Syndrome
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.
Primary ciliary dyskinesia 14
MedGen UID:
462486
Concept ID:
C3151136
Disease or Syndrome
Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 18
MedGen UID:
762331
Concept ID:
C3543825
Disease or Syndrome
Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012).
Ciliary dyskinesia, primary, 50
MedGen UID:
1841109
Concept ID:
C5830473
Disease or Syndrome
Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).

Professional guidelines

PubMed

Pifferi M, Bush A, Mulé G, Gracci S, Fonnesu R, Michelucci A, Cangiotti A, Caligo MA, Miccoli M, Boner AL, Peroni D
Ann Am Thorac Soc 2021 Jun;18(6):963-970. doi: 10.1513/AnnalsATS.202007-816OC. PMID: 33760720

Recent clinical studies

Etiology

Pifferi M, Bush A, Mulé G, Gracci S, Fonnesu R, Michelucci A, Cangiotti A, Caligo MA, Miccoli M, Boner AL, Peroni D
Ann Am Thorac Soc 2021 Jun;18(6):963-970. doi: 10.1513/AnnalsATS.202007-816OC. PMID: 33760720
Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T
Am J Med Genet A 2004 Sep 1;129A(3):308-11. doi: 10.1002/ajmg.a.30177. PMID: 15326634

Diagnosis

Pifferi M, Bush A, Mulé G, Gracci S, Fonnesu R, Michelucci A, Cangiotti A, Caligo MA, Miccoli M, Boner AL, Peroni D
Ann Am Thorac Soc 2021 Jun;18(6):963-970. doi: 10.1513/AnnalsATS.202007-816OC. PMID: 33760720
Shapiro AJ, Leigh MW
Ultrastruct Pathol 2017 Nov-Dec;41(6):373-385. Epub 2017 Sep 15 doi: 10.1080/01913123.2017.1362088. PMID: 28915070Free PMC Article
Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T
Am J Med Genet A 2004 Sep 1;129A(3):308-11. doi: 10.1002/ajmg.a.30177. PMID: 15326634

Therapy

Vevaina JR, Teichberg S, Buschman D, Kirkpatrick CH
Chest 1987 Jan;91(1):91-5. doi: 10.1378/chest.91.1.91. PMID: 2947784

Prognosis

Pifferi M, Bush A, Mulé G, Gracci S, Fonnesu R, Michelucci A, Cangiotti A, Caligo MA, Miccoli M, Boner AL, Peroni D
Ann Am Thorac Soc 2021 Jun;18(6):963-970. doi: 10.1513/AnnalsATS.202007-816OC. PMID: 33760720
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM
Hum Mutat 2013 Mar;34(3):462-72. Epub 2013 Feb 11 doi: 10.1002/humu.22261. PMID: 23255504Free PMC Article
Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T
Am J Med Genet A 2004 Sep 1;129A(3):308-11. doi: 10.1002/ajmg.a.30177. PMID: 15326634

Clinical prediction guides

Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM
Hum Mutat 2013 Mar;34(3):462-72. Epub 2013 Feb 11 doi: 10.1002/humu.22261. PMID: 23255504Free PMC Article

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