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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

Acute non-traumatic tetraparesis - Differential diagnosis.

Oliveira R, Ramalho Rocha F, Teodoro T, Oliveira Santos M
J Clin Neurosci 2021 May;87:116-124. Epub 2021 Mar 20 doi: 10.1016/j.jocn.2021.02.024. PMID: 33863518

Glaucoma Suspect: Diagnosis and Management.

Chang RT, Singh K
Asia Pac J Ophthalmol (Phila) 2016 Jan-Feb;5(1):32-7. doi: 10.1097/APO.0000000000000173. PMID: 26886117

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

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

Congenital cranial dysinnervation disorders.

Singh A, Pandey PK, Agrawal A, Mittal SK, Rana KM, Bahuguna C
Int Ophthalmol 2017 Dec;37(6):1369-1381. Epub 2016 Nov 11 doi: 10.1007/s10792-016-0388-z. PMID: 27837354

Guillain-Barré syndrome: clinical profile and management.

CHARGE syndrome.

Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034 Free PMC Article

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

See all (1473)

Diagnosis

Clinical neurophysiology of cranial nerve disorders.

Kennelly KD
Handb Clin Neurol 2019;161:327-342. doi: 10.1016/B978-0-444-64142-7.00058-8. PMID: 31307611

Brainstem dysgenesis: beyond Moebius syndrome.

Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550

Electrophysiology of Cranial Nerve Testing: Auditory Nerve.

Legatt AD
J Clin Neurophysiol 2018 Jan;35(1):25-38. doi: 10.1097/WNP.0000000000000421. PMID: 29298210

Guillain-Barré syndrome: clinical profile and management.

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

See all (2024)

Therapy

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.

Seventh cranial neuropathy.

Gilchrist JM
Semin Neurol 2009 Feb;29(1):5-13. Epub 2009 Feb 12 doi: 10.1055/s-0028-1124018. PMID: 19214928

CHARGE syndrome.

Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034 Free PMC Article

Painful sweating.

Goldstein DS, Pechnik S, Moak J, Eldadah B
Neurology 2004 Oct 26;63(8):1471-5. doi: 10.1212/01.wnl.0000142037.06255.a8. PMID: 15505167

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

Clinical neurophysiology of cranial nerve disorders.

Kennelly KD
Handb Clin Neurol 2019;161:327-342. doi: 10.1016/B978-0-444-64142-7.00058-8. PMID: 31307611

Brainstem dysgenesis: beyond Moebius syndrome.

Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550

Guillain-Barré syndrome: clinical profile and management.

Seventh cranial neuropathy.

Gilchrist JM
Semin Neurol 2009 Feb;29(1):5-13. Epub 2009 Feb 12 doi: 10.1055/s-0028-1124018. PMID: 19214928

See all (853)

Clinical prediction guides

Cranial Pair 0: The Nervus Terminalis.

Peña-Melián Á, Cabello-de la Rosa JP, Gallardo-Alcañiz MJ, Vaamonde-Gamo J, Relea-Calatayud F, González-López L, Villanueva-Anguita P, Flores-Cuadrado A, Saiz-Sánchez D, Martínez-Marcos A
Anat Rec (Hoboken) 2019 Mar;302(3):394-404. Epub 2018 May 17 doi: 10.1002/ar.23826. PMID: 29663690

Congenital Cranial Dysinnervation Disorders: A Literature Review.

Fels R
Am Orthopt J 2017 Jan;67(1):89-92. doi: 10.3368/aoj.67.1.89. PMID: 28904220

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.

Orbital syndromes.

Bhatti MT
Semin Neurol 2007 Jul;27(3):269-87. doi: 10.1055/s-2007-979685. PMID: 17577868

See all (1060)

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

Table of contents

Clinical resources

Practice guidelines

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Reviews

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