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Dystonia 34, myoclonic(DYT34)

MedGen UID:
1805016
Concept ID:
C5676907
Disease or Syndrome
Synonym: DYT34
 
Gene (location): KCNN2 (5q22.3)
 
Monarch Initiative: MONDO:0030538
OMIM®: 619724

Definition

Myoclonic dystonia-34 (DYT34) is an autosomal dominant neurologic disorder characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus (Balint et al., 2020). [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.
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).
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.
Hand tremor
MedGen UID:
68689
Concept ID:
C0239842
Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
Head tremor
MedGen UID:
68690
Concept ID:
C0239882
Finding
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
Impaired tandem gait
MedGen UID:
476998
Concept ID:
C3275367
Finding
Reduced ability to walk in a straight line while placing the feet heel to toe.
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Duane retraction syndrome
MedGen UID:
4413
Concept ID:
C0013261
Disease or Syndrome
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.
Rotary nystagmus
MedGen UID:
116106
Concept ID:
C0240595
Disease or Syndrome
A form of nystagmus in which the eyeball makes rotary motions around the axis.
Hypermetric saccades
MedGen UID:
140835
Concept ID:
C0423083
Finding
A saccade that overshoots the target with the dynamic saccade.
Impaired smooth pursuit
MedGen UID:
325176
Concept ID:
C1837458
Finding
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.

Recent clinical studies

Etiology

Miki Y, Foti SC, Asi YT, Tsushima E, Quinn N, Ling H, Holton JL
Brain 2019 Sep 1;142(9):2813-2827. doi: 10.1093/brain/awz189. PMID: 31289815
Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J
Clin Neurol Neurosurg 2016 Aug;147:78-83. Epub 2016 Jun 1 doi: 10.1016/j.clineuro.2016.05.028. PMID: 27310290
Multani N, Moro E, Lang A, Zurowski M, Duff Canning S, Tartaglia MC
Neurocase 2016;22(2):215-9. Epub 2015 Dec 11 doi: 10.1080/13554794.2015.1120312. PMID: 26652670

Diagnosis

Franchino CA, Brughera M, Baderna V, De Ritis D, Rocco A, Seneca S, Regal L, Podini P, D'Antonio M, Toro C, Quattrini A, Scalais E, Maltecca F
Brain 2024 Mar 1;147(3):1043-1056. doi: 10.1093/brain/awad340. PMID: 37804316Free PMC Article
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B
Parkinsonism Relat Disord 2020 Nov;80:165-174. Epub 2020 Sep 21 doi: 10.1016/j.parkreldis.2020.09.023. PMID: 33022436
van der Veen S, Zutt R, Klein C, Marras C, Berkovic SF, Caviness JN, Shibasaki H, de Koning TJ, Tijssen MAJ
Mov Disord 2019 Nov;34(11):1602-1613. Epub 2019 Oct 4 doi: 10.1002/mds.27828. PMID: 31584223Free PMC Article
Miki Y, Foti SC, Asi YT, Tsushima E, Quinn N, Ling H, Holton JL
Brain 2019 Sep 1;142(9):2813-2827. doi: 10.1093/brain/awz189. PMID: 31289815
Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J
Clin Neurol Neurosurg 2016 Aug;147:78-83. Epub 2016 Jun 1 doi: 10.1016/j.clineuro.2016.05.028. PMID: 27310290

Prognosis

Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J
Clin Neurol Neurosurg 2016 Aug;147:78-83. Epub 2016 Jun 1 doi: 10.1016/j.clineuro.2016.05.028. PMID: 27310290

Clinical prediction guides

Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B
Parkinsonism Relat Disord 2020 Nov;80:165-174. Epub 2020 Sep 21 doi: 10.1016/j.parkreldis.2020.09.023. PMID: 33022436
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
Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J
Clin Neurol Neurosurg 2016 Aug;147:78-83. Epub 2016 Jun 1 doi: 10.1016/j.clineuro.2016.05.028. PMID: 27310290
Nakashima K, Shimoda M, Sato K, Nanba E, Igo M, Sato K, Takahashi K
Intern Med 1995 Sep;34(9):843-6. doi: 10.2169/internalmedicine.34.843. PMID: 8580554

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