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Genetics Home Reference: your guide to understanding genetic conditions
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Myoclonus-dystonia

Reviewed July 2009

What is myoclonus-dystonia?

Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.

The movement problems usually appear in childhood or early adolescence, and myoclonus is typically the initial symptom. Myoclonus may be triggered by movement or stimulation of the affected body area, stress, sudden noise, or caffeine. In some cases, the myoclonus gets worse over time; in other cases, people experience a spontaneous improvement (remission) of their symptoms. It is unclear why the movement abnormalities improve in some people but not in others.

People with myoclonus-dystonia may have an increased risk for developing psychological conditions such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).

How common is myoclonus-dystonia?

The prevalence of myoclonus-dystonia is unknown. This condition has been described in people worldwide.

What genes are related to myoclonus-dystonia?

Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon (ε)-sarcoglycan, whose function is unknown. The ε-sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells.

SGCE gene mutations that cause myoclonus-dystonia result in a shortage of ε-sarcoglycan protein. The protein shortage seems to affect the regions of the brain involved in coordinating movements (the cerebellum) and controlling movements (the basal ganglia). Thus, the movement problems experienced by people with myoclonus-dystonia are caused by dysfunction in the brain, not the muscles. People with this condition show no signs of muscle disease. It is unknown why SGCE gene mutations seem only to affect the brain.

Related Gene(s)

Changes in this gene are associated with myoclonus-dystonia.

  • SGCE

How do people inherit myoclonus-dystonia?

Myoclonus-dystonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting.

Only the paternal copy of the SGCE gene is active. Myoclonus-dystonia occurs when mutations affect the paternal copy of the SGCE gene. Mutations in the maternal copy of the gene typically do not cause any health problems.

Where can I find information about diagnosis or management of myoclonus-dystonia?

These resources address the diagnosis or management of myoclonus-dystonia and may include treatment providers.

  • Gene Review: Myoclonus-Dystonia (http://www.ncbi.nlm.nih.gov/books/NBK1414/)
  • Genetic Testing Registry: Myoclonic dystonia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1834570)

You might also find information on the diagnosis or management of myoclonus-dystonia in Educational resources (http://ghr.nlm.nih.gov/condition/myoclonus-dystonia/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/myoclonus-dystonia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about myoclonus-dystonia?

You may find the following resources about myoclonus-dystonia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for myoclonus-dystonia?

  • alcohol-responsive dystonia
  • DYT11
  • hereditary essential myoclonus
  • myoclonic dystonia
  • myoclonus-dystonia syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about myoclonus-dystonia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding myoclonus-dystonia?

anxiety ; autosomal ; autosomal dominant ; cell ; cerebellum ; depression ; dystonia ; gene ; hereditary ; imprinting ; inherit ; inherited ; involuntary ; maternal ; muscle cells ; myoclonus ; obsessive-compulsive disorder ; OCD ; prevalence ; protein ; remission ; spontaneous ; stress ; symptom ; syndrome ; writer's cramp

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, Sillitoe RV, Beesley PW, Blake DJ. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet. 2007 Feb 1;16(3):327-42. Epub 2007 Jan 2. (http://www.ncbi.nlm.nih.gov/pubmed/17200151?dopt=Abstract)
  • Gerrits MC, Foncke EM, Koelman JH, Tijssen MA. Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. Eur J Paediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008.03.007. Epub 2008 Jun 20. (http://www.ncbi.nlm.nih.gov/pubmed/18571946?dopt=Abstract)
  • Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet. 2003 Feb;11(2):138-44. (http://www.ncbi.nlm.nih.gov/pubmed/12634861?dopt=Abstract)
  • Hedrich K, Meyer EM, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl AJ, Tijssen MA, Klein C. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology. 2004 Apr 13;62(7):1229-31. (http://www.ncbi.nlm.nih.gov/pubmed/15079037?dopt=Abstract)
  • Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, Franceschetti S. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov Disord. 2008 Oct 30;23(14):2041-8. doi: 10.1002/mds.22256. (http://www.ncbi.nlm.nih.gov/pubmed/18759336?dopt=Abstract)
  • Nardocci N, Zorzi G, Barzaghi C, Zibordi F, Ciano C, Ghezzi D, Garavaglia B. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord. 2008 Jan;23(1):28-34. (http://www.ncbi.nlm.nih.gov/pubmed/17853490?dopt=Abstract)
  • Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, Bloem BR, Vandenberghe W, Crols R, Speelman JD, Baas F, Tijssen MA. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9. (http://www.ncbi.nlm.nih.gov/pubmed/19066193?dopt=Abstract)
  • Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet. 2006 May;43(5):394-400. Epub 2005 Oct 14. (http://www.ncbi.nlm.nih.gov/pubmed/16227522?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2009
Published: August 18, 2014