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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 the avoidance of public places, especially where crowds gather.
Alcohol dependence
MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.\n\nAlcohol use disorder is a broad diagnosis that encompasses several commonly used terms describing problems with drinking. It includes alcoholism, also called alcohol addiction, which is a long-lasting (chronic) condition characterized by a powerful, compulsive urge to drink alcohol and the inability to stop drinking after starting. In addition to alcoholism, alcohol use disorder includes alcohol abuse, which involves problem drinking without addiction.\n\nHabitual excessive use of alcohol changes the chemistry of the brain and leads to tolerance, which means that over time the amount of alcohol ingested needs to be increased to achieve the same effect. Long-term excessive use of alcohol may also produce dependence, which means that when people stop drinking, they have physical and psychological symptoms of withdrawal, such as sleep problems, irritability, jumpiness, shakiness, restlessness, headache, nausea, sweating, anxiety, and depression. In severe cases, agitation, fever, seizures, and hallucinations can occur; this pattern of severe withdrawal symptoms is called delirium tremens.\n\nThe heavy drinking that often occurs in alcohol use disorder, and can also occur in short-term episodes called binge drinking, can lead to a life-threatening overdose known as alcohol poisoning. Alcohol poisoning occurs when a large quantity of alcohol consumed over a short time causes problems with breathing, heart rate, body temperature, and the gag reflex. Signs and symptoms can include vomiting, choking, confusion, slow or irregular breathing, pale or blue-tinged skin, seizures, a low body temperature, a toxic buildup of substances called ketones in the blood (alcoholic ketoacidosis), and passing out (unconsciousness). Coma, brain damage, and death can occur if alcohol poisoning is not treated immediately.\n\nChronic heavy alcohol use can also cause long-term problems affecting many organs and systems of the body. These health problems include irreversible liver disease (cirrhosis), inflammation of the pancreas (pancreatitis), brain dysfunction (encephalopathy), nerve damage (neuropathy), high blood pressure (hypertension), stroke, weakening of the heart muscle (cardiomyopathy), irregular heartbeats (arrhythmia), and immune system problems. Long-term overuse of alcohol also increases the risk of certain cancers, including cancers of the mouth, throat, esophagus, liver, and breast. Alcohol use in pregnant women can cause birth defects and fetal alcohol syndrome, which can lead to lifelong physical and behavioral problems in the affected child.
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.
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).
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Panic attack
MedGen UID:
39497
Concept ID:
C0086769
Mental or Behavioral Dysfunction
A sudden episode of intense fear in a situation where there is no danger or apparent cause.
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
Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
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.

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

Damante MA, Ganguly R, Huntoon KM, Kraut EH, Deogaonkar M
Neurol India 2022 Jan-Feb;70(1):402-404. doi: 10.4103/0028-3886.338650. PMID: 35263928
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
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

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
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
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

Damante MA, Ganguly R, Huntoon KM, Kraut EH, Deogaonkar M
Neurol India 2022 Jan-Feb;70(1):402-404. doi: 10.4103/0028-3886.338650. PMID: 35263928
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
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
Vidailhet M, Tassin J, Durif F, Nivelon-Chevallier A, Agid Y, Brice A, Dürr A
Neurology 2001 May 8;56(9):1213-6. doi: 10.1212/wnl.56.9.1213. PMID: 11342690

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