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Myoclonic dystonia 26(DYT26)

MedGen UID:
904244
Concept ID:
C4225341
Disease or Syndrome
Synonyms: DYSTONIA 26, MYOCLONIC; DYT26
 
Gene (location): KCTD17 (22q12.3)
 
Monarch Initiative: MONDO:0014620
OMIM®: 616398

Definition

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). [from OMIM]

Clinical features

From HPO
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
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.
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.
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).
Laryngeal dystonia
MedGen UID:
409603
Concept ID:
C1963946
Disease or Syndrome
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.
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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

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
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

Therapy

Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlström J, Drugge U
Mov Disord 1990;5(4):270-9. doi: 10.1002/mds.870050403. PMID: 2259350

Prognosis

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

Clinical prediction guides

Ikezawa J, Yokochi F, Okiyama R, Isoo A, Agari T, Kamiyama T, Yugeta A, Tojima M, Kawasaki T, Watanabe K, Kumada S, Takahashi K
J Neurol 2024 Jun;271(6):2948-2954. Epub 2024 Apr 4 doi: 10.1007/s00415-024-12334-z. PMID: 38575756

Recent systematic reviews

Peall KJ, Waite AJ, Blake DJ, Owen MJ, Morris HR
Mov Disord 2011 Aug 15;26(10):1939-42. Epub 2011 Jun 28 doi: 10.1002/mds.23791. PMID: 21713999

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