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Laryngeal dystonia

MedGen UID:
409603
Concept ID:
C1963946
Disease or Syndrome; Finding
Synonyms: Abductor spasmodic dysphonia (type); Adductor spasmodic dysphonia (type); Laryngeal dyskinesia; Mixed spasmodic dysphonia (type); Spasmodic dystonia; Spastic dysphonia
SNOMED CT: Laryngeal dystonia (3331000119108)
 
HPO: HP:0012049
Monarch Initiative: MONDO:0000485

Definition

A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLaryngeal dystonia

Conditions with this feature

Torsion dystonia 6
MedGen UID:
236274
Concept ID:
C1414216
Disease or Syndrome
Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene.
Neuroferritinopathy
MedGen UID:
381211
Concept ID:
C1853578
Disease or Syndrome
Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.
Dystonia 16
MedGen UID:
436979
Concept ID:
C2677567
Disease or Syndrome
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.\n\nThe signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).\n\nIn dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.\n\nSome people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.\n\nThe signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.
Dystonia 21
MedGen UID:
482866
Concept ID:
C3281236
Disease or Syndrome
Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by Norgren et al., 2011).
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Dystonia 27
MedGen UID:
907580
Concept ID:
C4225336
Disease or Syndrome
Dystonia-27 (DYT27) is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015).
Myoclonic dystonia 26
MedGen UID:
904244
Concept ID:
C4225341
Disease or Syndrome
Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015).
Dystonia 25
MedGen UID:
930339
Concept ID:
C4304670
Disease or Syndrome
DYT-GNAL caused by a heterozygous GNAL pathogenic variant has been reported in more than 60 individuals to date. It is characterized by adult-onset isolated dystonia (i.e., no neurologic abnormalities other than tremor are evident on neurologic examination). The dystonia is most commonly focal and segmental, and rarely generalized. Dystonia is typically cervical in onset and commonly progresses to the cranial region (oromandibular/jaw, larynx, eyelids) and/or to one arm. Tremor reported in DYT-GNAL may be dystonic (i.e., occurring in a body part that shows at least minimal signs of dystonia) and may precede or follow the onset of dystonia. Intra- and interfamilial variability is considerable. DYT-GNAL caused by biallelic GNAL pathogenic variants, reported to date in two sibs from a consanguineous family, is characterized by mild intellectual disability and childhood-onset hypertonia that progresses to generalized dystonia.
Dystonia 28, childhood-onset
MedGen UID:
934600
Concept ID:
C4310633
Disease or Syndrome
KMT2B-related dystonia (DYT-KMT2B) is a complex childhood-onset (mean age 7 years) movement disorder described to date in 39 individuals. It is characterized by a progressive disease course evolving commonly from lower-limb focal dystonia into generalized dystonia with prominent cervical, cranial, and laryngeal involvement. Communication difficulties, secondary to articulation difficulties and low speech volume, are common. Bulbar dysfunction leads to impaired swallowing. Intellectual disability (ID) / developmental delay (DD) are commonly reported. Additional findings can include eye movement abnormalities, skin changes, psychiatric comorbidities (attention-deficit/hyperactivity disorder, anxiety, depression, and obsessive-compulsive disorder), myoclonus, seizures, spasticity, and sensorineural hearing loss. Many affected individuals follow a similar disease course, though milder and atypical findings have been described.
Dystonia 32
MedGen UID:
1794239
Concept ID:
C5562029
Disease or Syndrome
Dystonia-32 (DYT32) is an autosomal recessive neurologic disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or posturing. The onset of symptoms is in adulthood, and the disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. There are no additional neurologic signs or symptoms (summary by Monfrini et al., 2021). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT32 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11.
Dystonia, early-onset, and/or spastic paraplegia
MedGen UID:
1794261
Concept ID:
C5562051
Disease or Syndrome
Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurologic movement disorder characterized by phenotypic variability, even within the same family. Some patients have onset of progressive focal and generalized dystonia in the first decade, as young as infancy, whereas others develop progressive spastic paraplegia as adults, suggesting that age affects the phenotype. Some patients have manifestations of both disorders. Most patients have ambulation difficulties (Gilbert et al., 2009). Rare patients may show hypotonia and neurodevelopmental delay (Zech et al., 2022).
Dystonia 22, juvenile-onset
MedGen UID:
1841281
Concept ID:
C5830645
Disease or Syndrome
Juvenile-onset dystonia-22 (DYT22JO) is an autosomal recessive disorder characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging (Mencacci et al., 2021).

Professional guidelines

PubMed

Blitzer A, Kohli N
Toxicon 2023 Sep;233:107258. Epub 2023 Aug 28 doi: 10.1016/j.toxicon.2023.107258. PMID: 37647998
Yeung W, Richards AL, Novakovic D
Toxins (Basel) 2022 Dec 1;14(12) doi: 10.3390/toxins14120844. PMID: 36548741Free PMC Article
Stachler RJ, Francis DO, Schwartz SR, Damask CC, Digoy GP, Krouse HJ, McCoy SJ, Ouellette DR, Patel RR, Reavis CCW, Smith LJ, Smith M, Strode SW, Woo P, Nnacheta LC
Otolaryngol Head Neck Surg 2018 Mar;158(1_suppl):S1-S42. doi: 10.1177/0194599817751030. PMID: 29494321

Recent clinical studies

Etiology

Jinnah HA, DeFazio G
Int Rev Neurobiol 2023;169:317-327. Epub 2023 Apr 20 doi: 10.1016/bs.irn.2023.04.001. PMID: 37482396
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA
Brain 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. PMID: 33150406Free PMC Article
Stachler RJ, Francis DO, Schwartz SR, Damask CC, Digoy GP, Krouse HJ, McCoy SJ, Ouellette DR, Patel RR, Reavis CCW, Smith LJ, Smith M, Strode SW, Woo P, Nnacheta LC
Otolaryngol Head Neck Surg 2018 Mar;158(1_suppl):S1-S42. doi: 10.1177/0194599817751030. PMID: 29494321
Blitzer A, Brin MF, Simonyan K, Ozelius LJ, Frucht SJ
Laryngoscope 2018 Jan;128 Suppl 1(Suppl 1):S1-S9. Epub 2017 Dec 8 doi: 10.1002/lary.27003. PMID: 29219190Free PMC Article
Hintze JM, Ludlow CL, Bansberg SF, Adler CH, Lott DG
Otolaryngol Head Neck Surg 2017 Oct;157(4):551-557. Epub 2017 Aug 29 doi: 10.1177/0194599817728521. PMID: 28850801

Diagnosis

O'Neill JR, Stephenson C
Psychopharmacol Bull 2022 Feb 25;52(1):61-67. PMID: 35342202Free PMC Article
Lin J, Sadoughi B
Adv Otorhinolaryngol 2020;85:133-143. Epub 2020 Nov 9 doi: 10.1159/000456693. PMID: 33166970
Snow G, Guardiani E
Otolaryngol Clin North Am 2019 Aug;52(4):759-767. Epub 2019 May 7 doi: 10.1016/j.otc.2019.03.018. PMID: 31076164
Stachler RJ, Francis DO, Schwartz SR, Damask CC, Digoy GP, Krouse HJ, McCoy SJ, Ouellette DR, Patel RR, Reavis CCW, Smith LJ, Smith M, Strode SW, Woo P, Nnacheta LC
Otolaryngol Head Neck Surg 2018 Mar;158(1_suppl):S1-S42. doi: 10.1177/0194599817751030. PMID: 29494321
Grillone GA, Chan T
Otolaryngol Clin North Am 2006 Feb;39(1):87-100. doi: 10.1016/j.otc.2005.11.001. PMID: 16469657

Therapy

O'Neill JR, Stephenson C
Psychopharmacol Bull 2022 Feb 25;52(1):61-67. PMID: 35342202Free PMC Article
Lin J, Sadoughi B
Adv Otorhinolaryngol 2020;85:133-143. Epub 2020 Nov 9 doi: 10.1159/000456693. PMID: 33166970
Snow G, Guardiani E
Otolaryngol Clin North Am 2019 Aug;52(4):759-767. Epub 2019 May 7 doi: 10.1016/j.otc.2019.03.018. PMID: 31076164
Stachler RJ, Francis DO, Schwartz SR, Damask CC, Digoy GP, Krouse HJ, McCoy SJ, Ouellette DR, Patel RR, Reavis CCW, Smith LJ, Smith M, Strode SW, Woo P, Nnacheta LC
Otolaryngol Head Neck Surg 2018 Mar;158(1_suppl):S1-S42. doi: 10.1177/0194599817751030. PMID: 29494321
Grillone GA, Chan T
Otolaryngol Clin North Am 2006 Feb;39(1):87-100. doi: 10.1016/j.otc.2005.11.001. PMID: 16469657

Prognosis

Timsina J, Dinasarapu A, Kilic-Berkmen G, Budde J, Sung YJ, Klein AM, Cruchaga C, Jinnah HA
Ann Neurol 2024 Jul;96(1):110-120. Epub 2024 Apr 5 doi: 10.1002/ana.26929. PMID: 38578115Free PMC Article
Ramírez-Ruiz RD, Quintillá M, Sandoval M, León L, Costa JM, Quer M
Acta Otorrinolaringol Esp (Engl Ed) 2024 May-Jun;75(3):148-154. Epub 2023 Oct 30 doi: 10.1016/j.otoeng.2023.07.001. PMID: 37913988
Dupuch G, Mailly M, Guillaume J, Daval M, Ayache D, Brasnu D
Am J Otolaryngol 2024 Jan-Feb;45(1):104090. Epub 2023 Oct 12 doi: 10.1016/j.amjoto.2023.104090. PMID: 37865985
Khosravani S, Chen G, Ozelius LJ, Simonyan K
Neurobiol Dis 2021 Jan;148:105223. Epub 2020 Dec 11 doi: 10.1016/j.nbd.2020.105223. PMID: 33316367Free PMC Article
Tierney WS, Bryson PC, Nelson R, Kaplan SE, Benninger MS, Milstein CF
Laryngoscope 2020 Dec;130(12):2843-2846. Epub 2020 Feb 19 doi: 10.1002/lary.28559. PMID: 32073668

Clinical prediction guides

Brin MF, Blitzer A
Medicine (Baltimore) 2023 Jul 1;102(S1):e32373. doi: 10.1097/MD.0000000000032373. PMID: 37499079Free PMC Article
Khosravani S, Chen G, Ozelius LJ, Simonyan K
Neurobiol Dis 2021 Jan;148:105223. Epub 2020 Dec 11 doi: 10.1016/j.nbd.2020.105223. PMID: 33316367Free PMC Article
Bally JF, Camargos S, Oliveira Dos Santos C, Kern DS, Lee T, Pereira da Silva-Junior F, Puga RD, Cardoso F, Barbosa ER, Yadav R, Ozelius LJ, de Carvalho Aguiar P, Lang AE
Neurology 2021 Apr 6;96(14):e1887-e1897. Epub 2020 Sep 17 doi: 10.1212/WNL.0000000000010882. PMID: 32943487Free PMC Article
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA
Brain 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. PMID: 33150406Free PMC Article
Stachler RJ, Francis DO, Schwartz SR, Damask CC, Digoy GP, Krouse HJ, McCoy SJ, Ouellette DR, Patel RR, Reavis CCW, Smith LJ, Smith M, Strode SW, Woo P, Nnacheta LC
Otolaryngol Head Neck Surg 2018 Mar;158(1_suppl):S1-S42. doi: 10.1177/0194599817751030. PMID: 29494321

Recent systematic reviews

Maguire PA, Brazel M, Looi JCL
Schizophr Res 2024 Feb;264:248-262. Epub 2024 Jan 6 doi: 10.1016/j.schres.2023.12.032. PMID: 38185029
Lester-Smith RA, Miller CH, Cherney LR
J Voice 2023 Jul;37(4):561-573. Epub 2021 Jun 8 doi: 10.1016/j.jvoice.2021.03.026. PMID: 34112549
Medina Escobar A, Martino D, Goodarzi Z
Eur J Neurol 2021 Dec;28(12):4238-4250. Epub 2021 Aug 16 doi: 10.1111/ene.15050. PMID: 34363292
Albanese A, Sorbo FD, Comella C, Jinnah HA, Mink JW, Post B, Vidailhet M, Volkmann J, Warner TT, Leentjens AF, Martinez-Martin P, Stebbins GT, Goetz CG, Schrag A
Mov Disord 2013 Jun 15;28(7):874-83. doi: 10.1002/mds.25579. PMID: 23893443Free PMC Article
Colosimo C, Tiple D, Berardelli A
Neurotox Res 2012 Nov;22(4):265-73. Epub 2012 Feb 23 doi: 10.1007/s12640-012-9314-y. PMID: 22359151

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