Dystonia 11, Myoclonic (DYT11)

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MedlinePlus Genetics: ⁴² 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).

MalaCards based summary: Dystonia 11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and sgce myoclonus-dystonia, and has symptoms including tremor and torticollis. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon). The drugs Zonisamide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus, brain and thalamus, and related phenotypes are spinal myoclonus and limb myoclonus

Disease Ontology ¹¹ Myoclonic dystonia: A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.

Myoclonic dystonia 11: A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has material basis in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.

OMIM®: ⁵⁷ 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). (159900) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.

GARD: ¹⁹ Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Orphanet: ⁵⁸ Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Wikipedia: ⁷⁵ Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Dystonia 11, Myoclonic