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Myoclonic dystonia 15(DYT15)

MedGen UID:
334492
•Concept ID:
C1843786
•
Disease or Syndrome
Synonym: Dystonia 15, myoclonic
 
Monarch Initiative: MONDO:0011844
OMIM®: 607488
Orphanet: ORPHA210566

Definition

A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11. [from MONDO]

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
Myoclonus
MedGen UID:
10234
•Concept ID:
C0027066
•
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
See: Feature record | Search on this feature
Writer cramp
MedGen UID:
57821
•Concept ID:
C0154676
•
Disease or Syndrome
A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Dystonia after striatopallidal and thalamic stroke: clinicoradiological correlations and pathophysiological mechanisms.
Krystkowiak P, Martinat P, Defebvre L, Pruvo JP, Leys D, Destée A
J Neurol Neurosurg Psychiatry 1998 Nov;65(5):703-8. doi: 10.1136/jnnp.65.5.703. PMID: 9810942Free PMC Article

Diagnosis

Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).
Rachad L, El Kadmiri N, Slassi I, El Otmani H, Nadifi S
Mol Neurobiol 2017 Mar;54(2):939-942. Epub 2016 Jan 20 doi: 10.1007/s12035-016-9712-x. PMID: 26790671
Dystonia after striatopallidal and thalamic stroke: clinicoradiological correlations and pathophysiological mechanisms.
Krystkowiak P, Martinat P, Defebvre L, Pruvo JP, Leys D, Destée A
J Neurol Neurosurg Psychiatry 1998 Nov;65(5):703-8. doi: 10.1136/jnnp.65.5.703. PMID: 9810942Free PMC Article

Prognosis

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K, Horisawa S, Mashimo H, Fukuda M, Kumada S, Kawamata T, Taira T, Akagawa H
Clin Genet 2023 Feb;103(2):209-213. Epub 2022 Oct 7 doi: 10.1111/cge.14233. PMID: 36161439
Population Prevalence of Deleterious SGCE Variants.
LeDoux MS
Tremor Other Hyperkinet Mov (N Y) 2020 Nov 4;10:50. doi: 10.5334/tohm.567. PMID: 33200041Free PMC Article

Clinical prediction guides

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K, Horisawa S, Mashimo H, Fukuda M, Kumada S, Kawamata T, Taira T, Akagawa H
Clin Genet 2023 Feb;103(2):209-213. Epub 2022 Oct 7 doi: 10.1111/cge.14233. PMID: 36161439
Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.
Sobstyl M, Stapińska-Syniec A, Zaremba J, Jurek M, Kupryjaniuk A, Rylski M
Neuromodulation 2022 Aug;25(6):918-924. Epub 2022 Jun 14 doi: 10.1111/ner.13362. PMID: 33497502
Population Prevalence of Deleterious SGCE Variants.
LeDoux MS
Tremor Other Hyperkinet Mov (N Y) 2020 Nov 4;10:50. doi: 10.5334/tohm.567. PMID: 33200041Free PMC Article
Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.
Kosutzka Z, Tisch S, Bonnet C, Ruiz M, Hainque E, Welter ML, Viallet F, Karachi C, Navarro S, Jahanshahi M, Rivaud-Pechoux S, Grabli D, Roze E, Vidailhet M
Mov Disord 2019 Jan;34(1):87-94. Epub 2018 Oct 9 doi: 10.1002/mds.27474. PMID: 30302819
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study.
Azoulay-Zyss J, Roze E, Welter ML, Navarro S, Yelnik J, Clot F, Bardinet E, Karachi C, Dormont D, Galanaud D, Pidoux B, Cornu P, Vidailhet M, Grabli D
Arch Neurol 2011 Jan;68(1):94-8. doi: 10.1001/archneurol.2010.338. PMID: 21220679

Supplemental Content

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