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Abnormal cranial nerve physiology

MedGen UID:: 1671020
•Concept ID:: C4732756
•: Pathologic Function

HPO:	HP:0031910

Definition

A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal cranial nerve physiology

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Abnormal nervous system physiology
        Abnormal cranial nerve physiology
        Abnormal fifth cranial nerve physiology
        Sweating and flushing in the preauricular area in response to mastication
        Trigeminal anesthesia
        Abnormal seventh cranial physiology
        Cranial nerve paralysis
        Abducens nerve palsy
        Cranial Nerve II Palsy
        Facial paralysis
        Acquired Facial Nerve Palsy
        Congenital facial nerve palsy
        Facial Nerve Palsy Related to Birth
        Facial Nerve Palsy Related to Trauma
        Fourth cranial nerve palsy
        Glossopharyngeal nerve paralysis
        Hypoglossal nerve palsy
        Oculomotor nerve palsy
        Congenital oculomotor nerve palsy
        Holmes-Adie syndrome
        Palsy of accessory nerve
        Palsy of vagus nerve
        Progressive bulbar palsy
        Brown-Vialetto-van Laere syndrome 1
        Trigeminal nerve palsy
        Vestibulocochlear nerve palsy
        Gustatory lacrimation
        Lower cranial nerve dysfunction
        Vestibular nystagmus

Conditions with this feature

Bethlem myopathy

MedGen UID:: 331805
•Concept ID:: C1834674
•: Disease or Syndrome

Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. The age at onset is highly variable, ranging from infancy to adulthood. Disease progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013). Genetic Heterogeneity of Bethlem Myopathy See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14.

See: Condition Record

Bethlem myopathy

Professional guidelines

PubMed

Guillain-Barré syndrome: clinical profile and management.

Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R
Ger Med Sci 2015;13:Doc16. Epub 2015 Sep 21 doi: 10.3205/000220. PMID: 26421004 Free PMC Article

Neuropharmacologic aspects of the ocular motor system and the treatment of abnormal eye movements.

Leigh RJ, Ramat S
Curr Opin Neurol 1999 Feb;12(1):21-7. doi: 10.1097/00019052-199902000-00004. PMID: 10097880

Diagnosis and management of cardiac arrhythmias.

Fisch C
Curr Probl Cardiol 1977 Mar;1(12):1-57. doi: 10.1016/s0146-2806(77)80001-7. PMID: 324712

See all (94)

Recent clinical studies

Etiology

Classification and Current Management of Inner Ear Malformations.

Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850 Free PMC Article

Guillain-Barré syndrome: clinical profile and management.

Neurofibromatosis 2.

Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Trigeminal neuralgia.

Edlich RF, Winters KL, Britt L, Long WB 3rd
J Long Term Eff Med Implants 2006;16(2):185-92. doi: 10.1615/jlongtermeffmedimplants.v16.i2.80. PMID: 16700659

Stapedectomy in children.

House JW, Sheehy JL, Antunez JC
Laryngoscope 1980 Nov;90(11 Pt 1):1804-9. doi: 10.1288/00005537-198011000-00007. PMID: 7432061

See all (1486)

Diagnosis

Septo-optic dysplasia.

Kumar V, Karunakaran A, Valakada J
Int Ophthalmol 2018 Feb;38(1):337-338. Epub 2017 Jan 3 doi: 10.1007/s10792-016-0437-7. PMID: 28050731

Guillain-Barré syndrome: clinical profile and management.

Congenital trochlear-oculomotor synkinesis.

Bursztyn LL, Makar I
J Neuroophthalmol 2014 Mar;34(1):64-6. doi: 10.1097/WNO.0000000000000091. PMID: 24413161

The blind infant.

Buncic JR
Pediatr Clin North Am 1987 Dec;34(6):1403-13. PMID: 3120140

Acute infantile hemiplegia.

Carter S, Gold AP
Pediatr Clin North Am 1967 Nov;14(4):851-64. doi: 10.1016/s0031-3955(16)32060-0. PMID: 4875466

See all (2040)

Therapy

Nailing septo-optic dysplasia.

Palui R, Sahoo JP, Kamalanathan S, Sridharan K
BMJ Case Rep 2018 Feb 7;2018 doi: 10.1136/bcr-2017-223956. PMID: 29437724 Free PMC Article

Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.

Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419 Free PMC Article

Guillain-Barré syndrome: clinical profile and management.

Idiopathic intracranial hypertension.

Friedman DI, Jacobson DM
J Neuroophthalmol 2004 Jun;24(2):138-45. doi: 10.1097/00041327-200406000-00009. PMID: 15179068

Neuropsychiatric lupus.

Abel T, Gladman DD, Urowitz MB
J Rheumatol 1980 May-Jun;7(3):325-33. PMID: 6249928

See all (587)

Prognosis

Cranial nerve 13.

Pineda AG, Leon-Sarmiento FE, Doty RL
Handb Clin Neurol 2019;164:135-144. doi: 10.1016/B978-0-444-63855-7.00009-5. PMID: 31604543

Guillain-Barré syndrome: clinical profile and management.

Neurofibromatosis 2.

Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Heart-rate recovery immediately after exercise as a predictor of mortality.

Cole CR, Blackstone EH, Pashkow FJ, Snader CE, Lauer MS
N Engl J Med 1999 Oct 28;341(18):1351-7. doi: 10.1056/NEJM199910283411804. PMID: 10536127

Acute infantile hemiplegia.

Carter S, Gold AP
Pediatr Clin North Am 1967 Nov;14(4):851-64. doi: 10.1016/s0031-3955(16)32060-0. PMID: 4875466

See all (863)

Clinical prediction guides

Giant Papillary and Peripapillary Staphyloma.

Ghassemi F, Sheikhghomi S, Khalilipour E
JAMA Ophthalmol 2021 Feb 1;139(2):e204075. Epub 2021 Feb 17 doi: 10.1001/jamaophthalmol.2020.4075. PMID: 33595607

Intracranial pressure-induced optic nerve sheath response as a predictive biomarker for optic disc edema in astronauts.

Wostyn P, De Deyn PP
Biomark Med 2017 Nov;11(11):1003-1008. Epub 2017 Sep 4 doi: 10.2217/bmm-2017-0218. PMID: 28869392

Classification and Current Management of Inner Ear Malformations.

Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850 Free PMC Article

Guillain-Barré syndrome: clinical profile and management.

A guide to the isolated dilated pupil.

Lee AG, Taber KH, Hayman LA, Tang RA
Arch Fam Med 1997 Jul-Aug;6(4):385-8. doi: 10.1001/archfami.6.4.385. PMID: 9225713

See all (1072)

Recent systematic reviews

A Systematic Review and Meta-analysis Examining Outcomes of Cochlear Implantation in Children With Bilateral Cochlear Nerve Deficiency.

Maturi JR, Noij KS, Babu V, Creighton FX Jr, Galaiya D, Jenks CM
Otol Neurotol 2024 Oct 1;45(9):971-984. doi: 10.1097/MAO.0000000000004274. PMID: 39264916

Dysfunction of the Auditory System in Children With Hypothyroidism: A Systematic Review and Meta-Analysis.

Zhang K, Fried J, Nguyen SA, Meyer TA, White DR
Ear Hear 2022 Jan/Feb;43(1):23-31. doi: 10.1097/AUD.0000000000001082. PMID: 34282088

Assessment of eye closure and blink with facial palsy: A systematic literature review.

Zaidman M, Novak CB, Borschel GH, Joachim K, Zuker RM
J Plast Reconstr Aesthet Surg 2021 Jul;74(7):1436-1445. Epub 2021 Mar 30 doi: 10.1016/j.bjps.2021.03.059. PMID: 33952434

Syringobulbia in Patients with Chiari Malformation Type I: A Systematic Review.

Shen J, Shen J, Huang K, Wu Y, Pan J, Zhan R
Biomed Res Int 2019;2019:4829102. Epub 2019 Mar 19 doi: 10.1155/2019/4829102. PMID: 31016190 Free PMC Article

Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.

Garcia-Filion P, Borchert M
Surv Ophthalmol 2013 Nov-Dec;58(6):610-9. doi: 10.1016/j.survophthal.2013.02.004. PMID: 24160732 Free PMC Article

See all (8)

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Abnormal cranial nerve physiology

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

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Clinical resources

Practice guidelines

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