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Loss of voice

MedGen UID:
2006
Concept ID:
C0003564
Sign or Symptom
Synonyms: Absence of Voice; Aphonia; Voice Absence; Voice Absences
SNOMED CT: Aphonia (441913003); Does not vocalize (44564008); Does not produce voice (44564008); Does not phonate (44564008); Absence of voice (44564008); Loss of voice (44564008)
 
HPO: HP:0001686

Definition

A term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of voice

Conditions with this feature

Paragangliomas 3
MedGen UID:
340200
Concept ID:
C1854336
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Paragangliomas 2
MedGen UID:
357076
Concept ID:
C1866552
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Paragangliomas 1
MedGen UID:
488134
Concept ID:
C3494181
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Neurodegeneration with ataxia and late-onset optic atrophy
MedGen UID:
1779901
Concept ID:
C5543254
Disease or Syndrome
Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) is an autosomal dominant disorder with somewhat variable manifestations. Most affected individuals present in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some patients may have a childhood history of neurologic features, including limited extraocular movements. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment (summary by Taylor et al., 1996 and Courage et al., 2017).

Professional guidelines

PubMed

Vlčková K, Tedla M
Otolaryngol Pol 2019 Jun 12;73(5):31-36. doi: 10.5604/01.3001.0013.2310. PMID: 31701898
Ahmed AR
Expert Opin Investig Drugs 2004 Aug;13(8):1019-32. doi: 10.1517/13543784.13.8.1019. PMID: 15268639
McQuellon RP, Hurt GJ
Otolaryngol Clin North Am 1997 Apr;30(2):231-41. PMID: 9052667

Recent clinical studies

Etiology

Martins de Sousa M, Matos R, Vilarinho H, Santos M, Silveira H
Acta Otorrinolaringol Esp (Engl Ed) 2022 Jul-Aug;73(4):219-224. doi: 10.1016/j.otoeng.2021.05.002. PMID: 35908815
Abur D, Subaciute A, Kapsner-Smith M, Segina RK, Tracy LF, Noordzij JP, Stepp CE
Sci Rep 2021 Jun 23;11(1):13123. doi: 10.1038/s41598-021-92250-8. PMID: 34162907Free PMC Article
Vlčková K, Tedla M
Otolaryngol Pol 2019 Jun 12;73(5):31-36. doi: 10.5604/01.3001.0013.2310. PMID: 31701898
Tintinago LF, Victoria W, Candelo E, Diaz JC, Arce JC, Aristizabal LM, Sanz C, Montes MC, Velez-Esquivia MA
Am J Otolaryngol 2018 Sep-Oct;39(5):536-541. Epub 2018 Jun 5 doi: 10.1016/j.amjoto.2018.06.005. PMID: 29898859
McQuellon RP, Hurt GJ
Otolaryngol Clin North Am 1997 Apr;30(2):231-41. PMID: 9052667

Diagnosis

Hoang VT, Dao TL, Ly TDA, Drali T, Yezli S, Parola P, Pommier de Santi V, Gautret P
Acta Microbiol Immunol Hung 2022 Dec 6;69(4):283-289. Epub 2022 Nov 11 doi: 10.1556/030.2022.01895. PMID: 36370366
Abur D, Subaciute A, Kapsner-Smith M, Segina RK, Tracy LF, Noordzij JP, Stepp CE
Sci Rep 2021 Jun 23;11(1):13123. doi: 10.1038/s41598-021-92250-8. PMID: 34162907Free PMC Article
Vlčková K, Tedla M
Otolaryngol Pol 2019 Jun 12;73(5):31-36. doi: 10.5604/01.3001.0013.2310. PMID: 31701898
Tintinago LF, Victoria W, Candelo E, Diaz JC, Arce JC, Aristizabal LM, Sanz C, Montes MC, Velez-Esquivia MA
Am J Otolaryngol 2018 Sep-Oct;39(5):536-541. Epub 2018 Jun 5 doi: 10.1016/j.amjoto.2018.06.005. PMID: 29898859
McQuellon RP, Hurt GJ
Otolaryngol Clin North Am 1997 Apr;30(2):231-41. PMID: 9052667

Therapy

Martins de Sousa M, Matos R, Vilarinho H, Santos M, Silveira H
Acta Otorrinolaringol Esp (Engl Ed) 2022 Jul-Aug;73(4):219-224. doi: 10.1016/j.otoeng.2021.05.002. PMID: 35908815
Leonhard M, Schneider-Stickler B
Adv Exp Med Biol 2015;830:123-36. doi: 10.1007/978-3-319-11038-7_8. PMID: 25366225
Ahmed AR
Expert Opin Investig Drugs 2004 Aug;13(8):1019-32. doi: 10.1517/13543784.13.8.1019. PMID: 15268639
Cady J
Clin J Oncol Nurs 2002 Nov-Dec;6(6):347-51. doi: 10.1188/02.CJON.347-351. PMID: 12434467
Blom ED
Oncology (Williston Park) 2000 Jun;14(6):915-22; discussion 927-8, 931. PMID: 10887638

Prognosis

Hoang VT, Dao TL, Ly TDA, Drali T, Yezli S, Parola P, Pommier de Santi V, Gautret P
Acta Microbiol Immunol Hung 2022 Dec 6;69(4):283-289. Epub 2022 Nov 11 doi: 10.1556/030.2022.01895. PMID: 36370366
Vlčková K, Tedla M
Otolaryngol Pol 2019 Jun 12;73(5):31-36. doi: 10.5604/01.3001.0013.2310. PMID: 31701898
Tintinago LF, Victoria W, Candelo E, Diaz JC, Arce JC, Aristizabal LM, Sanz C, Montes MC, Velez-Esquivia MA
Am J Otolaryngol 2018 Sep-Oct;39(5):536-541. Epub 2018 Jun 5 doi: 10.1016/j.amjoto.2018.06.005. PMID: 29898859
Ahmed AR
Expert Opin Investig Drugs 2004 Aug;13(8):1019-32. doi: 10.1517/13543784.13.8.1019. PMID: 15268639
McQuellon RP, Hurt GJ
Otolaryngol Clin North Am 1997 Apr;30(2):231-41. PMID: 9052667

Clinical prediction guides

Puzio A, Best DL
J Adolesc 2020 Oct;84:243-250. Epub 2020 Oct 3 doi: 10.1016/j.adolescence.2020.09.011. PMID: 33022423
Nynäs P, Vilpas S, Kankare E, Karjalainen J, Lehtimäki L, Numminen J, Tikkakoski A, Kleemola L, Uitti J
BMJ Open 2019 Jun 25;9(6):e026485. doi: 10.1136/bmjopen-2018-026485. PMID: 31243032Free PMC Article
Nayak SG, Pai MS, George LS
J Cancer Res Ther 2019 Jul-Sep;15(3):638-644. doi: 10.4103/jcrt.JCRT_1123_16. PMID: 31169233
Giannini SP, Latorre Mdo R, Ferreira LP
Codas 2016 Jan-Feb;28(1):53-8. doi: 10.1590/2317-1782/20162015030. PMID: 27074190
McQuellon RP, Hurt GJ
Otolaryngol Clin North Am 1997 Apr;30(2):231-41. PMID: 9052667

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