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Dystonia 24(DYT24)

MedGen UID:
767288
•Concept ID:
C3554374
•
Disease or Syndrome
Synonyms: DYT-ANO3; DYT24
SNOMED CT: Dystonia 24 (783179009); Cranio-cervical dystonia with laryngeal and upper limb involvement (783179009); DYT24 - dystonia 24 (783179009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): ANO3 (11p14.3-14.2)
 
Monarch Initiative: MONDO:0014019
OMIM®: 615034
Orphanet: ORPHA420485

Definition

Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012). [from OMIM]

Clinical features

From HPO
Torticollis
MedGen UID:
11859
•Concept ID:
C0040485
•
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
See: Feature record | Search on this feature
Limb tremor
MedGen UID:
115980
•Concept ID:
C0235081
•
Sign or Symptom
See: Feature record | Search on this feature
Head tremor
MedGen UID:
68690
•Concept ID:
C0239882
•
Finding
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
See: Feature record | Search on this feature
Oromandibular dystonia
MedGen UID:
473560
•Concept ID:
C2242577
•
Sign or Symptom
A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
See: Feature record | Search on this feature
Arm dystonia
MedGen UID:
1671069
•Concept ID:
C4732776
•
Finding
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.
See: Feature record | Search on this feature
Blepharospasm
MedGen UID:
599
•Concept ID:
C0005747
•
Disease or Syndrome
A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Holmes tremor: Clinical description, lesion localization, and treatment in a series of 29 cases.
Raina GB, Cersosimo MG, Folgar SS, Giugni JC, Calandra C, Paviolo JP, Tkachuk VA, Zuñiga Ramirez C, Tschopp AL, Calvo DS, Pellene LA, Uribe Roca MC, Velez M, Giannaula RJ, Fernandez Pardal MM, Micheli FE
Neurology 2016 Mar 8;86(10):931-8. Epub 2016 Feb 10 doi: 10.1212/WNL.0000000000002440. PMID: 26865524Free PMC Article

Recent clinical studies

Etiology

Holmes tremor: Clinical description, lesion localization, and treatment in a series of 29 cases.
Raina GB, Cersosimo MG, Folgar SS, Giugni JC, Calandra C, Paviolo JP, Tkachuk VA, Zuñiga Ramirez C, Tschopp AL, Calvo DS, Pellene LA, Uribe Roca MC, Velez M, Giannaula RJ, Fernandez Pardal MM, Micheli FE
Neurology 2016 Mar 8;86(10):931-8. Epub 2016 Feb 10 doi: 10.1212/WNL.0000000000002440. PMID: 26865524Free PMC Article

Diagnosis

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
Aihara Y, Shirota M, Kikuchi A, Katata Y, Abe Y, Niihori T, Funayama R, Nakayama K, Aoki Y, Kure S
J Hum Genet 2023 Jan;68(1):51-54. Epub 2022 Sep 27 doi: 10.1038/s10038-022-01082-5. PMID: 36167772
The expanding clinical and genetic spectrum of ANO3 dystonia.
Jiang LT, Li LX, Liu Y, Zhang XL, Pan YG, Wang L, Wan XH, Jin LJ
Neurosci Lett 2021 Feb 16;746:135590. Epub 2020 Dec 31 doi: 10.1016/j.neulet.2020.135590. PMID: 33388357
Holmes tremor: Clinical description, lesion localization, and treatment in a series of 29 cases.
Raina GB, Cersosimo MG, Folgar SS, Giugni JC, Calandra C, Paviolo JP, Tkachuk VA, Zuñiga Ramirez C, Tschopp AL, Calvo DS, Pellene LA, Uribe Roca MC, Velez M, Giannaula RJ, Fernandez Pardal MM, Micheli FE
Neurology 2016 Mar 8;86(10):931-8. Epub 2016 Feb 10 doi: 10.1212/WNL.0000000000002440. PMID: 26865524Free PMC Article
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP
Mov Disord 2014 Jun;29(7):928-34. Epub 2014 Jan 17 doi: 10.1002/mds.25802. PMID: 24442708Free PMC Article
Dystonia in Wilson's disease.
Svetel M, Kozić D, Stefanova E, Semnic R, Dragasevic N, Kostic VS
Mov Disord 2001 Jul;16(4):719-23. doi: 10.1002/mds.1118. PMID: 11481698

Therapy

Holmes tremor: Clinical description, lesion localization, and treatment in a series of 29 cases.
Raina GB, Cersosimo MG, Folgar SS, Giugni JC, Calandra C, Paviolo JP, Tkachuk VA, Zuñiga Ramirez C, Tschopp AL, Calvo DS, Pellene LA, Uribe Roca MC, Velez M, Giannaula RJ, Fernandez Pardal MM, Micheli FE
Neurology 2016 Mar 8;86(10):931-8. Epub 2016 Feb 10 doi: 10.1212/WNL.0000000000002440. PMID: 26865524Free PMC Article
Mechanism-driven phase I translational study of trifluoperazine in adults with sickle cell disease.
Molokie RE, Wilkie DJ, Wittert H, Suarez ML, Yao Y, Zhao Z, He Y, Wang ZJ
Eur J Pharmacol 2014 Jan 15;723:419-24. Epub 2013 Nov 7 doi: 10.1016/j.ejphar.2013.10.062. PMID: 24211787Free PMC Article

Prognosis

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
Aihara Y, Shirota M, Kikuchi A, Katata Y, Abe Y, Niihori T, Funayama R, Nakayama K, Aoki Y, Kure S
J Hum Genet 2023 Jan;68(1):51-54. Epub 2022 Sep 27 doi: 10.1038/s10038-022-01082-5. PMID: 36167772
Dystonia in Wilson's disease.
Svetel M, Kozić D, Stefanova E, Semnic R, Dragasevic N, Kostic VS
Mov Disord 2001 Jul;16(4):719-23. doi: 10.1002/mds.1118. PMID: 11481698

Clinical prediction guides

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
Aihara Y, Shirota M, Kikuchi A, Katata Y, Abe Y, Niihori T, Funayama R, Nakayama K, Aoki Y, Kure S
J Hum Genet 2023 Jan;68(1):51-54. Epub 2022 Sep 27 doi: 10.1038/s10038-022-01082-5. PMID: 36167772
The Prevalence and Correlation of Non-motor Symptoms in Adult Patients with Idiopathic Focal or Segmental Dystonia.
Novaretti N, Cunha ALN, Bezerra TC, Pena Pereira MA, de Oliveira DS, Macruz Brito MMC, Pimentel AV, Brozinga TR, Foss MP, Tumas V
Tremor Other Hyperkinet Mov (N Y) 2019;9:596. Epub 2019 Feb 4 doi: 10.7916/fhnv-v355. PMID: 30783550Free PMC Article
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP
Mov Disord 2014 Jun;29(7):928-34. Epub 2014 Jan 17 doi: 10.1002/mds.25802. PMID: 24442708Free PMC Article

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