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Dystonia 1(DYT1)

MedGen UID:
338823
Concept ID:
C1851945
Disease or Syndrome
Synonyms: Dystonia 1, modifier of; Dystonia 1, torsion, autosomal dominant; Dystonia musculorum deformans 1; DYT1; DYT1 Early-Onset Primary Dystonia; Early onset torsion dystonia; Early-onset primary dystonia; Early-Onset Primary Dystonia (DYT1); Idiopathic dystonia DYT1; Idiopathic torsion dystonia; Oppenheim's dystonia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): TOR1A (9q34.11)
OMIM®: 128100

Disease characteristics

Excerpted from the GeneReview: DYT1 Early-Onset Isolated Dystonia
DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign. [from GeneReviews]
Authors:
Laurie Ozelius  |  Naomi Lubarr   view full author information

Additional descriptions

From OMIM
'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance (Muller and Kupke, 1990; Nemeth, 2002).  http://www.omim.org/entry/128100
From GHR
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence.On average, the signs and symptoms of early-onset primary dystonia appear around age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or walking. In some affected people, dystonia later spreads to other parts of the body and may occur at rest. The abnormal movements persist throughout life, but they do not usually cause pain.The signs and symptoms of early-onset primary dystonia vary from person to person, even among affected members of the same family. The mildest cases affect only a single part of the body, causing isolated problems such as a writer's cramp in the hand. Severe cases involve abnormal movements affecting many regions of the body.  https://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia

Clinical features

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.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
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.
Torsion dystonia
MedGen UID:
3941
Concept ID:
C0013423
Disease or Syndrome
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as. -Parkinson's disease. -Dystonia. -Multiple sclerosis. -Stroke. -Traumatic brain injury. -Alcohol abuse and withdrawal. -Certain medicines. Some forms are inherited and run in families. Others have no known cause. . There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke.
Spasmodic torticollis
MedGen UID:
101818
Concept ID:
C0152116
Sign or Symptom
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
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.
Abnormal posturing
MedGen UID:
66660
Concept ID:
C0231471
Finding
Involuntary flexion or extension of the arms and legs.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Spasmodic torticollis
MedGen UID:
101818
Concept ID:
C0152116
Sign or Symptom
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
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.
Spasmodic torticollis
MedGen UID:
101818
Concept ID:
C0152116
Sign or Symptom
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.

Term Hierarchy

Professional guidelines

PubMed

Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602

Recent clinical studies

Etiology

Patel AB, Bansberg SF, Adler CH, Lott DG, Crujido L
Ann Otol Rhinol Laryngol 2015 Nov;124(11):859-63. Epub 2015 May 29 doi: 10.1177/0003489415588557. PMID: 26024910
Tardy M, Dold M, Engel RR, Leucht S
Cochrane Database Syst Rev 2014 Sep 1;(9):CD009227. doi: 10.1002/14651858.CD009227.pub2. PMID: 25177834
Rybakowski JK, Vansteelandt K, Remlinger-Molenda A, Fleischhacker WW, Kahn RS, Peuskens J; EUFEST Study Group.
Eur Neuropsychopharmacol 2014 Sep;24(9):1500-5. Epub 2014 Jul 21 doi: 10.1016/j.euroneuro.2014.07.001. PMID: 25085534
Perrin E, Anand E, Dyachkova Y, Wagner T, Frediani S, Ballerini A; OBS-IM investigators group.
Eur Psychiatry 2012 May;27(4):234-9. Epub 2010 Jul 9 doi: 10.1016/j.eurpsy.2010.04.005. PMID: 20620029
Söhn AS, Glöckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O, Bauer P, Müller U, Grundmann K
Mov Disord 2010 Sep 15;25(12):1982-6. doi: 10.1002/mds.23207. PMID: 20669277

Diagnosis

Patel AB, Bansberg SF, Adler CH, Lott DG, Crujido L
Ann Otol Rhinol Laryngol 2015 Nov;124(11):859-63. Epub 2015 May 29 doi: 10.1177/0003489415588557. PMID: 26024910
Meissner A, van der Plas AA, van Dasselaar NT, Deelder AM, van Hilten JJ, Mayboroda OA
Pain 2014 Jan;155(1):190-6. Epub 2013 Oct 11 doi: 10.1016/j.pain.2013.10.005. PMID: 24120462
Tong ML, Lin LR, Zhang HL, Huang SJ, Liu GL, Zheng WH, Su YH, Wu JY, Dong J, Liu LL, Yang TC
Parkinsonism Relat Disord 2013 Apr;19(4):441-5. Epub 2013 Feb 8 doi: 10.1016/j.parkreldis.2013.01.003. PMID: 23395216
Müller U
Brain 2009 Aug;132(Pt 8):2005-25. Epub 2009 Jul 3 doi: 10.1093/brain/awp172. PMID: 19578124
Ellis TM, Foote KD, Fernandez HH, Sudhyadhom A, Rodriguez RL, Zeilman P, Jacobson CE 4th, Okun MS
Neurosurgery 2008 Oct;63(4):754-60; discussion 760-1. doi: 10.1227/01.NEU.0000325492.58799.35. PMID: 18981887

Therapy

Patel AB, Bansberg SF, Adler CH, Lott DG, Crujido L
Ann Otol Rhinol Laryngol 2015 Nov;124(11):859-63. Epub 2015 May 29 doi: 10.1177/0003489415588557. PMID: 26024910
Tardy M, Dold M, Engel RR, Leucht S
Cochrane Database Syst Rev 2014 Sep 1;(9):CD009227. doi: 10.1002/14651858.CD009227.pub2. PMID: 25177834
Rybakowski JK, Vansteelandt K, Remlinger-Molenda A, Fleischhacker WW, Kahn RS, Peuskens J; EUFEST Study Group.
Eur Neuropsychopharmacol 2014 Sep;24(9):1500-5. Epub 2014 Jul 21 doi: 10.1016/j.euroneuro.2014.07.001. PMID: 25085534
Powney MJ, Adams CE, Jones H
Cochrane Database Syst Rev 2012 Nov 14;11:CD009377. doi: 10.1002/14651858.CD009377.pub2. PMID: 23152276
Perrin E, Anand E, Dyachkova Y, Wagner T, Frediani S, Ballerini A; OBS-IM investigators group.
Eur Psychiatry 2012 May;27(4):234-9. Epub 2010 Jul 9 doi: 10.1016/j.eurpsy.2010.04.005. PMID: 20620029

Prognosis

Loher TJ, Capelle HH, Kaelin-Lang A, Weber S, Weigel R, Burgunder JM, Krauss JK
J Neurol 2008 Jun;255(6):881-4. Epub 2008 Mar 14 doi: 10.1007/s00415-008-0798-6. PMID: 18338193
Zhang JG, Zhang K, Wang ZC, Ge M, Ma Y
Chin Med J (Engl) 2006 Dec 20;119(24):2069-74. PMID: 17199958
Miranda M, Dichgans M, Slachevsky A, Urbina F, Mena I, Venegas P, Galvez M
Mov Disord 2006 Jul;21(7):1008-12. doi: 10.1002/mds.20879. PMID: 16538621
Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O
Arch Neurol 2003 Sep;60(9):1266-70. doi: 10.1001/archneur.60.9.1266. PMID: 12975293
Sowunmi A
Afr J Med Med Sci 1997 Mar-Jun;26(1-2):9-11. PMID: 10895220

Clinical prediction guides

Delnooz CC, Pasman JW, Beckmann CF, van de Warrenburg BP
Brain Struct Funct 2015 Jan;220(1):513-23. Epub 2013 Nov 21 doi: 10.1007/s00429-013-0671-y. PMID: 24259114
Tardy M, Dold M, Engel RR, Leucht S
Cochrane Database Syst Rev 2014 Sep 1;(9):CD009227. doi: 10.1002/14651858.CD009227.pub2. PMID: 25177834
Perrin E, Anand E, Dyachkova Y, Wagner T, Frediani S, Ballerini A; OBS-IM investigators group.
Eur Psychiatry 2012 May;27(4):234-9. Epub 2010 Jul 9 doi: 10.1016/j.eurpsy.2010.04.005. PMID: 20620029
Ellis TM, Foote KD, Fernandez HH, Sudhyadhom A, Rodriguez RL, Zeilman P, Jacobson CE 4th, Okun MS
Neurosurgery 2008 Oct;63(4):754-60; discussion 760-1. doi: 10.1227/01.NEU.0000325492.58799.35. PMID: 18981887
Loher TJ, Capelle HH, Kaelin-Lang A, Weber S, Weigel R, Burgunder JM, Krauss JK
J Neurol 2008 Jun;255(6):881-4. Epub 2008 Mar 14 doi: 10.1007/s00415-008-0798-6. PMID: 18338193

Recent systematic reviews

Tardy M, Dold M, Engel RR, Leucht S
Cochrane Database Syst Rev 2014 Sep 1;(9):CD009227. doi: 10.1002/14651858.CD009227.pub2. PMID: 25177834
Peeraully T, Hameed S, Cheong PT, Pavanni R, Hussein K, Fook-Chong SM, Tan EK
Int J Clin Pract 2013 Aug;67(8):801-6. doi: 10.1111/ijcp.12151. PMID: 23869681
Powney MJ, Adams CE, Jones H
Cochrane Database Syst Rev 2012 Nov 14;11:CD009377. doi: 10.1002/14651858.CD009377.pub2. PMID: 23152276

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