U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Phonophobia

MedGen UID:
155864
Concept ID:
C0751466
Mental or Behavioral Dysfunction
Synonym: Phonophobias
SNOMED CT: Phonophobia (313387002)
 
HPO: HP:0002183

Definition

An abnormally heightened sensitivity to loud sounds. [from HPO]

Conditions with this feature

Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Migraine with or without aura, susceptibility to, 6
MedGen UID:
334829
Concept ID:
C1843765
Finding
Migraine with or without aura, susceptibility to, 5
MedGen UID:
334831
Concept ID:
C1843771
Finding
For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300).
Migraine without aura, susceptibility to, 4
MedGen UID:
336040
Concept ID:
C1843773
Finding
An inherited susceptibility or predisposition to developing migraines without aura.
Migraine with or without aura, susceptibility to, 3
MedGen UID:
375283
Concept ID:
C1843782
Finding
Migraine, familial typical, susceptibility to, 2
MedGen UID:
341144
Concept ID:
C1848066
Finding
Migraine with or without aura, susceptibility to, 11
MedGen UID:
387900
Concept ID:
C1857751
Finding
Migraine with or without aura, susceptibility to, 10
MedGen UID:
341839
Concept ID:
C1857752
Finding
Migraine, familial hemiplegic, 3
MedGen UID:
400655
Concept ID:
C1864987
Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.
Migraine with or without aura, susceptibility to, 12
MedGen UID:
388698
Concept ID:
C2673676
Finding
Episodic ataxia type 6
MedGen UID:
390739
Concept ID:
C2675211
Disease or Syndrome
An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Migraine with or without aura, susceptibility to, 1
MedGen UID:
854348
Concept ID:
C3887485
Finding
Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). See also familial hemiplegic migraine-1 (FHM1; 141500), a subtype of autosomal dominant migraine with aura (MA).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.

Professional guidelines

PubMed

Khan J, Asoom LIA, Sunni AA, Rafique N, Latif R, Saif SA, Almandil NB, Almohazey D, AbdulAzeez S, Borgio JF
Biomed Pharmacother 2021 Jul;139:111557. Epub 2021 May 17 doi: 10.1016/j.biopha.2021.111557. PMID: 34243621
Dolati S, Rikhtegar R, Mehdizadeh A, Yousefi M
Biol Trace Elem Res 2020 Aug;196(2):375-383. Epub 2019 Nov 5 doi: 10.1007/s12011-019-01931-z. PMID: 31691193
Oskoui M, Pringsheim T, Holler-Managan Y, Potrebic S, Billinghurst L, Gloss D, Hershey AD, Licking N, Sowell M, Victorio MC, Gersz EM, Leininger E, Zanitsch H, Yonker M, Mack K
Neurology 2019 Sep 10;93(11):487-499. Epub 2019 Aug 14 doi: 10.1212/WNL.0000000000008095. PMID: 31413171

Recent clinical studies

Etiology

Ahmad SR, Rosendale N
Curr Pain Headache Rep 2022 Jul;26(7):505-516. Epub 2022 Jun 9 doi: 10.1007/s11916-022-01052-8. PMID: 35679008Free PMC Article
de Vries T, Villalón CM, MaassenVanDenBrink A
Pharmacol Ther 2020 Jul;211:107528. Epub 2020 Mar 12 doi: 10.1016/j.pharmthera.2020.107528. PMID: 32173558
Dodick DW, Lipton RB, Ailani J, Lu K, Finnegan M, Trugman JM, Szegedi A
N Engl J Med 2019 Dec 5;381(23):2230-2241. doi: 10.1056/NEJMoa1813049. PMID: 31800988
Oskoui M, Pringsheim T, Holler-Managan Y, Potrebic S, Billinghurst L, Gloss D, Hershey AD, Licking N, Sowell M, Victorio MC, Gersz EM, Leininger E, Zanitsch H, Yonker M, Mack K
Neurology 2019 Sep 10;93(11):487-499. Epub 2019 Aug 14 doi: 10.1212/WNL.0000000000008095. PMID: 31413171
Dwyer B, Katz DI
Handb Clin Neurol 2018;158:163-178. doi: 10.1016/B978-0-444-63954-7.00017-3. PMID: 30482344

Diagnosis

Villar-Martinez MD, Goadsby PJ
Cells 2022 Sep 5;11(17) doi: 10.3390/cells11172767. PMID: 36078174Free PMC Article
Khan J, Asoom LIA, Sunni AA, Rafique N, Latif R, Saif SA, Almandil NB, Almohazey D, AbdulAzeez S, Borgio JF
Biomed Pharmacother 2021 Jul;139:111557. Epub 2021 May 17 doi: 10.1016/j.biopha.2021.111557. PMID: 34243621
Oskoui M, Pringsheim T, Holler-Managan Y, Potrebic S, Billinghurst L, Gloss D, Hershey AD, Licking N, Sowell M, Victorio MC, Gersz EM, Leininger E, Zanitsch H, Yonker M, Mack K
Neurology 2019 Sep 10;93(11):487-499. Epub 2019 Aug 14 doi: 10.1212/WNL.0000000000008095. PMID: 31413171
Dwyer B, Katz DI
Handb Clin Neurol 2018;158:163-178. doi: 10.1016/B978-0-444-63954-7.00017-3. PMID: 30482344
Goadsby PJ, Holland PR, Martins-Oliveira M, Hoffmann J, Schankin C, Akerman S
Physiol Rev 2017 Apr;97(2):553-622. doi: 10.1152/physrev.00034.2015. PMID: 28179394Free PMC Article

Therapy

Ahmad SR, Rosendale N
Curr Pain Headache Rep 2022 Jul;26(7):505-516. Epub 2022 Jun 9 doi: 10.1007/s11916-022-01052-8. PMID: 35679008Free PMC Article
Dolati S, Rikhtegar R, Mehdizadeh A, Yousefi M
Biol Trace Elem Res 2020 Aug;196(2):375-383. Epub 2019 Nov 5 doi: 10.1007/s12011-019-01931-z. PMID: 31691193
Dodick DW, Lipton RB, Ailani J, Lu K, Finnegan M, Trugman JM, Szegedi A
N Engl J Med 2019 Dec 5;381(23):2230-2241. doi: 10.1056/NEJMoa1813049. PMID: 31800988
Oskoui M, Pringsheim T, Holler-Managan Y, Potrebic S, Billinghurst L, Gloss D, Hershey AD, Licking N, Sowell M, Victorio MC, Gersz EM, Leininger E, Zanitsch H, Yonker M, Mack K
Neurology 2019 Sep 10;93(11):487-499. Epub 2019 Aug 14 doi: 10.1212/WNL.0000000000008095. PMID: 31413171
Edvinsson L
Handb Exp Pharmacol 2019;255:121-130. doi: 10.1007/164_2018_201. PMID: 30725283

Prognosis

Ahmad SR, Rosendale N
Curr Pain Headache Rep 2022 Jul;26(7):505-516. Epub 2022 Jun 9 doi: 10.1007/s11916-022-01052-8. PMID: 35679008Free PMC Article
Allusoglu S, Aksoy S
Braz J Otorhinolaryngol 2022 Nov-Dec;88 Suppl 3(Suppl 3):S155-S163. Epub 2021 Dec 23 doi: 10.1016/j.bjorl.2021.11.009. PMID: 35177354Free PMC Article
Yalın OÖ, Uluduz D, Özge A, Sungur MA, Selekler M, Siva A
J Headache Pain 2016;17:26. Epub 2016 Mar 15 doi: 10.1186/s10194-016-0616-y. PMID: 26975363Free PMC Article
Laker SR
Curr Pain Headache Rep 2015 Aug;19(8):41. doi: 10.1007/s11916-015-0510-3. PMID: 26122533
Martins IP, Gouveia RG, Parreira E
J Pain 2006 Jun;7(6):445-51. doi: 10.1016/j.jpain.2006.01.449. PMID: 16750801

Clinical prediction guides

Sekiguchi K, Huh S, Watanabe N, Miyazaki N, Ishizuchi K, Iba C, Tagashira Y, Shibata M, Takemura R, Nakahara J, Takizawa T
Intern Med 2024 May 1;63(9):1217-1222. Epub 2023 Sep 15 doi: 10.2169/internalmedicine.1757-23. PMID: 37722898Free PMC Article
Bahra A
Cephalalgia 2023 Nov;43(11):3331024231214239. doi: 10.1177/03331024231214239. PMID: 37950675
Allusoglu S, Aksoy S
Braz J Otorhinolaryngol 2022 Nov-Dec;88 Suppl 3(Suppl 3):S155-S163. Epub 2021 Dec 23 doi: 10.1016/j.bjorl.2021.11.009. PMID: 35177354Free PMC Article
Yalın OÖ, Uluduz D, Özge A, Sungur MA, Selekler M, Siva A
J Headache Pain 2016;17:26. Epub 2016 Mar 15 doi: 10.1186/s10194-016-0616-y. PMID: 26975363Free PMC Article
Westcott M
Acta Otolaryngol Suppl 2006 Dec;(556):54-8. doi: 10.1080/03655230600895531. PMID: 17114144

Recent systematic reviews

Li G, Duan S, Zhu T, Ren Z, Xia H, Wang Z, Liu L, Liu Z
J Headache Pain 2023 Sep 18;24(1):129. doi: 10.1186/s10194-023-01662-6. PMID: 37723470Free PMC Article
Christensen CE, Andersen FS, Wienholtz N, Egeberg A, Thyssen JP, Ashina M
Cephalalgia 2018 Jun;38(7):1387-1398. Epub 2017 Sep 18 doi: 10.1177/0333102417731777. PMID: 28920449
Thorlund K, Toor K, Wu P, Chan K, Druyts E, Ramos E, Bhambri R, Donnet A, Stark R, Goadsby PJ
Cephalalgia 2017 Sep;37(10):965-978. Epub 2016 Aug 12 doi: 10.1177/0333102416660552. PMID: 27521843
Derry CJ, Derry S, Moore RA
Cochrane Database Syst Rev 2012 Feb 15;2012(2):CD009663. doi: 10.1002/14651858.CD009663. PMID: 22336867Free PMC Article
Derry S, Rabbie R, Moore RA
Cochrane Database Syst Rev 2012 Feb 15;2(2):CD008783. doi: 10.1002/14651858.CD008783.pub2. PMID: 22336852Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...