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Myoclonic dystonia 11(DYT11)

MedGen UID:
331778
Concept ID:
C1834570
Disease or Syndrome
Synonyms: Dystonia 11; Dystonia, alcohol responsive; DYT-SGCE; DYT11; Hereditary essential myoclonus; Myoclonic dystonia; Myoclonus-Dystonia
SNOMED CT: Myoclonic dystonia (439732004)
 
Gene (location): SGCE (7q21.3)
 
Monarch Initiative: MONDO:0008044
OMIM®: 159900

Disease characteristics

Excerpted from the GeneReview: SGCE Myoclonus-Dystonia
SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of SGCE-M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include alcohol abuse, obsessive-compulsive disorder (OCD), and anxiety disorders. Symptom onset is usually in the first decade of life and almost always by age 20 years, but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. SGCE-M-D is compatible with an active life of normal span. [from GeneReviews]
Authors:
Deborah Raymond  |  Rachel Saunders-Pullman  |  Laurie Ozelius   view full author information

Additional descriptions

From OMIM
Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities (Valente et al., 2003; Schule et al., 2004).  http://www.omim.org/entry/159900
From MedlinePlus Genetics
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).

The movement problems usually first appear in childhood or early adolescence with the development of myoclonus. In most cases, the movement problems remain stable throughout life. In some adults, myoclonus improves with alcohol consumption, which can lead to affected individuals self-medicating and developing alcohol use disorder.

People with myoclonus-dystonia often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).  https://medlineplus.gov/genetics/condition/myoclonus-dystonia

Clinical features

From HPO
Agoraphobia
MedGen UID:
175
Concept ID:
C0001818
Mental or Behavioral Dysfunction
A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
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).
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
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.
Compulsive behaviors
MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Myoclonic dystonia 11 in Orphanet.

Professional guidelines

PubMed

Paucar M, Laffita-Mesa J, Niemelä V, Malmgren H, Nennesmo I, Lagerstedt-Robinson K, Nordenskjöld M, Svenningsson P
J Neurol Sci 2023 Aug 15;451:120707. Epub 2023 Jun 10 doi: 10.1016/j.jns.2023.120707. PMID: 37379724

Recent clinical studies

Etiology

Coenen MA, Eggink H, Spikman JM, Tijssen MA
Parkinsonism Relat Disord 2021 Aug;89:162-166. Epub 2021 Jul 21 doi: 10.1016/j.parkreldis.2021.07.016. PMID: 34315049
Popa T, Milani P, Richard A, Hubsch C, Brochard V, Tranchant C, Sadnicka A, Rothwell J, Vidailhet M, Meunier S, Roze E
JAMA Neurol 2014 May;71(5):612-9. doi: 10.1001/jamaneurol.2014.99. PMID: 24638021
van der Meer JN, Beukers RJ, van der Salm SM, Caan MW, Tijssen MA, Nederveen AJ
Mov Disord 2012 Nov;27(13):1666-72. Epub 2012 Oct 31 doi: 10.1002/mds.25128. PMID: 23114862
Beukers RJ, Foncke EM, van der Meer JN, Veltman DJ, Tijssen MA
Arch Neurol 2011 Jun;68(6):802-5. Epub 2011 Feb 14 doi: 10.1001/archneurol.2011.23. PMID: 21320983
Gruber D, Kühn AA, Schoenecker T, Kivi A, Trottenberg T, Hoffmann KT, Gharabaghi A, Kopp UA, Schneider GH, Klein C, Asmus F, Kupsch A
Mov Disord 2010 Aug 15;25(11):1733-43. doi: 10.1002/mds.23312. PMID: 20623686

Diagnosis

de Leon MAJ, Rosales RL, Klein C, Westenberger A
BMC Neurol 2022 Jan 5;22(1):11. doi: 10.1186/s12883-021-02530-z. PMID: 34986800Free PMC Article
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
Popa T, Milani P, Richard A, Hubsch C, Brochard V, Tranchant C, Sadnicka A, Rothwell J, Vidailhet M, Meunier S, Roze E
JAMA Neurol 2014 May;71(5):612-9. doi: 10.1001/jamaneurol.2014.99. PMID: 24638021
Huang CL, Lan MY, Chang YY, Hsu CY, Lai SC, Chen RS, Chang HC, Lu CS, Wu-Chou YH
Parkinsonism Relat Disord 2010 Nov;16(9):585-9. Epub 2010 Aug 30 doi: 10.1016/j.parkreldis.2010.06.016. PMID: 20800530
Quinn NP
Mov Disord 1996 Mar;11(2):119-24. doi: 10.1002/mds.870110202. PMID: 8684380

Therapy

Hainque E, Vidailhet M, Cozic N, Charbonnier-Beaupel F, Thobois S, Tranchant C, Brochard V, Glibert G, Drapier S, Mutez E, Doe De Maindreville A, Lebouvier T, Hubsch C, Degos B, Bonnet C, Grabli D, Legrand AP, Méneret A, Azulay JP, Bissery A, Zahr N, Clot F, Mallet A, Dupont S, Apartis E, Corvol JC, Roze E
Neurology 2016 May 3;86(18):1729-35. Epub 2016 Apr 6 doi: 10.1212/WNL.0000000000002631. PMID: 27053715
Moss J, Ryder T, Aziz TZ, Graeber MB, Bain PG
Brain 2004 Dec;127(Pt 12):2755-63. Epub 2004 Aug 25 doi: 10.1093/brain/awh292. PMID: 15329356
Quinn NP
Mov Disord 1996 Mar;11(2):119-24. doi: 10.1002/mds.870110202. PMID: 8684380

Prognosis

Moss J, Ryder T, Aziz TZ, Graeber MB, Bain PG
Brain 2004 Dec;127(Pt 12):2755-63. Epub 2004 Aug 25 doi: 10.1093/brain/awh292. PMID: 15329356

Clinical prediction guides

Coenen MA, Eggink H, Spikman JM, Tijssen MA
Parkinsonism Relat Disord 2021 Aug;89:162-166. Epub 2021 Jul 21 doi: 10.1016/j.parkreldis.2021.07.016. PMID: 34315049
Popa T, Milani P, Richard A, Hubsch C, Brochard V, Tranchant C, Sadnicka A, Rothwell J, Vidailhet M, Meunier S, Roze E
JAMA Neurol 2014 May;71(5):612-9. doi: 10.1001/jamaneurol.2014.99. PMID: 24638021
Kühn AA, Krause P, Lauritsch K, Zentner C, Brücke C, Schneider GH
J Child Neurol 2014 Nov;29(11):NP149-50. Epub 2014 Jan 21 doi: 10.1177/0883073813513071. PMID: 24453142
Beukers RJ, Foncke EM, van der Meer JN, Veltman DJ, Tijssen MA
Arch Neurol 2011 Jun;68(6):802-5. Epub 2011 Feb 14 doi: 10.1001/archneurol.2011.23. PMID: 21320983
Gruber D, Kühn AA, Schoenecker T, Kivi A, Trottenberg T, Hoffmann KT, Gharabaghi A, Kopp UA, Schneider GH, Klein C, Asmus F, Kupsch A
Mov Disord 2010 Aug 15;25(11):1733-43. doi: 10.1002/mds.23312. PMID: 20623686

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