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Dystonia 35, childhood-onset(DYT35)

MedGen UID:
1801185
•Concept ID:
C5677003
•
Disease or Syndrome
Synonym: DYT35
 
Gene (location): SHQ1 (3p13)
 
Monarch Initiative: MONDO:0030958
OMIM®: 619921

Definition

Childhood-onset dystonia-35 (DYT35) is an autosomal recessive neurologic disorder characterized by the onset of a dystonic movement disorder in the first year of life. Symptoms may be partially responsive to L-DOPA treatment. Neurodevelopment is otherwise normal (Sleiman et al., 2022). [from OMIM]

Clinical features

From HPO
Dystonic disorder
MedGen UID:
3940
•Concept ID:
C0013421
•
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article

Recent clinical studies

Etiology

Safety and Efficacy of Flexible-Dose Deutetrabenazine in Children and Adolescents With Tourette Syndrome: A Randomized Clinical Trial.
Jankovic J, Coffey B, Claassen DO, Jimenez-Shahed J, Gertz BJ, Garofalo EA, Stamler DA, Wieman M, Savola JM, Gordon MF, Alexander J, Barkay H, Harary E
JAMA Netw Open 2021 Oct 1;4(10):e2128204. doi: 10.1001/jamanetworkopen.2021.28204. PMID: 34609495Free PMC Article
Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia.
Ramezani Ghamsari M, Ghourchian S, Emamikhah M, Safdarian M, Shahidi G, Parvaresh M, Moghaddasi M, Habibi SAH, Munhoz RP, Rohani M
Clin Neurol Neurosurg 2021 Feb;201:106449. Epub 2020 Dec 28 doi: 10.1016/j.clineuro.2020.106449. PMID: 33395620
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC
Neurology 2019 Jan 1;92(1):e19-e29. Epub 2018 Nov 30 doi: 10.1212/WNL.0000000000006700. PMID: 30504431

Diagnosis

Early recognition of SGCE-myoclonus-dystonia in children.
Correa-Vela M, Carvalho J, Ferrero-Turrion J, Cazurro-Gutiérrez A, Vanegas M, Gonzalez V, Alvárez R, Marcé-Grau A, Moreno A, Macaya-Ruiz A, Pérez-Dueñas B
Dev Med Child Neurol 2023 Feb;65(2):207-214. Epub 2022 Jun 20 doi: 10.1111/dmcn.15298. PMID: 35723607
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC
Neurology 2019 Jan 1;92(1):e19-e29. Epub 2018 Nov 30 doi: 10.1212/WNL.0000000000006700. PMID: 30504431
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article

Therapy

Safety and Efficacy of Flexible-Dose Deutetrabenazine in Children and Adolescents With Tourette Syndrome: A Randomized Clinical Trial.
Jankovic J, Coffey B, Claassen DO, Jimenez-Shahed J, Gertz BJ, Garofalo EA, Stamler DA, Wieman M, Savola JM, Gordon MF, Alexander J, Barkay H, Harary E
JAMA Netw Open 2021 Oct 1;4(10):e2128204. doi: 10.1001/jamanetworkopen.2021.28204. PMID: 34609495Free PMC Article
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article

Prognosis

Early recognition of SGCE-myoclonus-dystonia in children.
Correa-Vela M, Carvalho J, Ferrero-Turrion J, Cazurro-Gutiérrez A, Vanegas M, Gonzalez V, Alvárez R, Marcé-Grau A, Moreno A, Macaya-Ruiz A, Pérez-Dueñas B
Dev Med Child Neurol 2023 Feb;65(2):207-214. Epub 2022 Jun 20 doi: 10.1111/dmcn.15298. PMID: 35723607
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.
Baumann H, Tunc S, Günther A, Münchau A, Lohmann K, Brüggemann N
Parkinsonism Relat Disord 2020 Nov;80:41-46. Epub 2020 Sep 11 doi: 10.1016/j.parkreldis.2020.09.012. PMID: 32949958
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC
Neurology 2019 Jan 1;92(1):e19-e29. Epub 2018 Nov 30 doi: 10.1212/WNL.0000000000006700. PMID: 30504431
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
Mari F, Berti B, Romano A, Baldacci J, Rizzi R, Grazia Alessandrì M, Tessa A, Procopio E, Rubegni A, Lourenḉo CM, Simonati A, Guerrini R, Santorelli FM
Neurogenetics 2018 May;19(2):123-130. Epub 2018 Feb 8 doi: 10.1007/s10048-018-0538-8. PMID: 29423566
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article

Clinical prediction guides

Safety and Efficacy of Flexible-Dose Deutetrabenazine in Children and Adolescents With Tourette Syndrome: A Randomized Clinical Trial.
Jankovic J, Coffey B, Claassen DO, Jimenez-Shahed J, Gertz BJ, Garofalo EA, Stamler DA, Wieman M, Savola JM, Gordon MF, Alexander J, Barkay H, Harary E
JAMA Netw Open 2021 Oct 1;4(10):e2128204. doi: 10.1001/jamanetworkopen.2021.28204. PMID: 34609495Free PMC Article
Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia.
Ramezani Ghamsari M, Ghourchian S, Emamikhah M, Safdarian M, Shahidi G, Parvaresh M, Moghaddasi M, Habibi SAH, Munhoz RP, Rohani M
Clin Neurol Neurosurg 2021 Feb;201:106449. Epub 2020 Dec 28 doi: 10.1016/j.clineuro.2020.106449. PMID: 33395620
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.
Baumann H, Tunc S, Günther A, Münchau A, Lohmann K, Brüggemann N
Parkinsonism Relat Disord 2020 Nov;80:41-46. Epub 2020 Sep 11 doi: 10.1016/j.parkreldis.2020.09.012. PMID: 32949958

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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