Myoclonic dystonia

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 is usually in childhood or adolescence and symptoms often respond to ALCOHOL DRINKING; patients can also have MENTAL DISORDERS. Mutations in the SGCE abd DRD2 genes have been identified. OMIM: 159900

Also Known As:

Networked: 171 relevant articles (10 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Myoclonus (Nocturnal Myoclonus)
2.	Dystonia (Limb Dystonia)
3.	Essential Tremor (Essential Tremors)
4.	Tremor (Tremors)
5.	Peripheral Nervous System Diseases (PNS Diseases)

Experts

1.	Klein, Christine: 11 articles (01/2022 - 11/2002)
2.	Vidailhet, Marie: 8 articles (01/2020 - 10/2002)
3.	Blake, Derek J: 8 articles (02/2017 - 02/2007)
4.	Bhatia, Kailash P: 7 articles (11/2019 - 10/2002)
5.	Roze, Emmanuel: 7 articles (01/2019 - 04/2008)
6.	Kühn, Andrea A: 6 articles (01/2021 - 10/2002)
7.	Lang, Anthony E: 6 articles (11/2018 - 02/2003)
8.	Tijssen, M A J: 6 articles (07/2014 - 03/2006)
9.	Klein, C: 6 articles (11/2006 - 03/2000)
10.	Kupsch, Andreas: 5 articles (01/2021 - 10/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Myoclonic dystonia:

1.	Sarcoglycans (beta Sarcoglycan)IBA 12/01/2011 - "The various medical treatments applied to myoclonus-dystonia patients with a mutation of the ε-sarcoglycan gene (SGCE) have not been beneficial in most cases. " 08/01/2022 - "The study aimed to present a family with myoclonus dystonia (M-D) syndrome due to a mutation in the epsilon sarcoglycan gene (SGCE). " 01/01/2019 - "The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (DYT11)-positive myoclonus-dystonia. " 09/01/2003 - "This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases." 01/01/2023 - "Myoclonus dystonia syndrome typically results from autosomal dominant mutations in the epsilon-sarcoglycan gene (SGCE) via the paternally expressed allele on chromosome 7q21. "
2.	Zonisamide (Zonegran)FDA LinkGeneric 08/01/2019 - "The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetically proven myoclonus-dystonia. " 05/03/2016 - "We conducted a randomized, double-blind, placebo-controlled crossover trial of zonisamide (300 mg/d) in 24 patients with myoclonus-dystonia. " 05/03/2016 - "A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia." 08/01/2019 - "[Zonisamide treatment in myoclonus-dystonia]." 05/03/2016 - "Zonisamide is well-tolerated and effective on the motor symptoms of myoclonus-dystonia. "
3.	Therapeutic UsesIBA 08/01/2014 - "Recent studies confirm lasting therapeutic effects of deep brain stimulation in isolated dystonia, good treatment response in myoclonus-dystonia, and suggest that early treatment correlates with a better outcome. " 01/01/2018 - "Recent studies demonstrated that zonisamide is an interesting therapeutic option in myoclonus-dystonia, and that bilateral pallidal stimulation has major and lasting therapeutic effects. "
4.	Ethanol (Ethyl Alcohol)IBA 10/15/2010 - "On the other hand, ethanol can ameliorate essential tremor and myoclonus-dystonia. " 01/01/2020 - "Ethanol-responsive movement disorders are a group of movement disorders of which clinical manifestation could receive significant improvement after ethanol intake, including essential tremor, myoclonus-dystonia, and some other hyperkinesia. " 10/21/2020 - "Patients with essential tremor, vocal tremor, torticollis, myoclonus-dystonia and posthypoxic myoclonus often benefit in a surprisingly rapid and robust manner from ingestion of a modest amount of alcohol (ethanol). "
5.	Cholinergic Antagonists (Anticholinergics)IBA 12/01/2011 - "A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously."
6.	Valproic Acid (Depakote)FDA LinkGeneric 03/01/1992 - "We report a young man with myoclonic dystonia who displayed only little response to alcohol but improved significantly with a combination of sodium valproate for myoclonus and trihexiphenidyl hydrochloride for dystonia. "
7.	perampanelIBA 08/01/2023 - "Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome."
8.	Dopamine (Intropin)FDA LinkGeneric 02/01/2009 - "To study striatal dopamine D(2) receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D). " 02/15/2009 - "In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L-dopa may be considered in patients with myoclonus-dystonia." 04/01/2015 - "Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. "
9.	Levodopa (L Dopa)FDA LinkGeneric 07/31/2012 - "It is important to consider THD in the differential diagnosis of myoclonus-dystonia, because early treatment with levodopa is crucial for these patients." 04/01/2023 - "Dystonia Responding to Levodopa in A Child with Myoclonus-Dystonia." 09/20/2022 - "We report a patient with SCA21 who presented with myoclonus dystonia (M-D) syndrome and whose dystonia showed a modest response to levodopa. " 09/01/1991 - "Certain subsyndromes as myoclonic dystonia, levodopa sensitive dystonia and paroxysmal choreoathetosis may benefit from relatively specific treatment strategies." 01/01/1991 - "Certain subsyndromes as myoclonic dystonia, levodopa sensitive dystonia and paroxysmal choreoathetosis may benefit from relatively specific treatment strategies."
10.	Protein Isoforms (Isoforms)IBA 02/01/2017 - "Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome." 04/01/2011 - "SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?" 01/01/2023 - "This isoform is brain-specific and is mostly expressed in the cerebellum, which supports recent studies showing that cerebellar dysfunction is a key element in the pathophysiology of SGCE myoclonus-dystonia."

Therapies and Procedures

1.	Deep Brain Stimulation 01/01/2023 - "There is evidence that deep brain stimulation (DBS) is beneficial for this genotype, however, there are few prior case reports on DBS for myoclonus dystonia syndrome secondary to other confirmed genetic etiologies. " 12/01/2011 - "The possibility of spontaneous improvement should be kept in mind when considering the therapeutic strategy in myoclonus-dystonia patients, especially when contemplating deep-brain stimulation." 02/01/2021 - "Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data." 01/01/2021 - "Observational study to evaluate long-term effects of deep brain stimulation (DBS) of the globus pallidus internus (GPi) and the ventral intermediate thalamic nucleus (VIM) on patients with medically refractory myoclonus dystonia (MD). " 01/01/2021 - "Long-term effects of pallidal and thalamic deep brain stimulation in myoclonus dystonia."
2.	Transcutaneous Electric Nerve Stimulation (TENS) 03/01/1985 - "Treatment of myoclonic dystonia with transcutaneous electrical nerve stimulation." 02/01/2003 - "Based on the claims that transcutaneous electrical nerve stimulation is effective in myoclonic dystonia and essential tremor, we evaluated its acute effects in 5 patients with essential tremor and 2 patients with tremor attributed to peripheral neuropathy using as parameters the Washington Heights-Inwood Genetic Study of Essential Tremor rating scale, self-reported impression, and recording of electromyographic activity. "
3.	Transcranial Magnetic Stimulation 04/01/2009 - "The aim of the present study is to investigate cortical excitability in patients with DYT 11 positive Myoclonus-Dystonia (M-D), using transcranial magnetic stimulation (TMS). "
4.	Therapeutics 01/01/2020 - "We review the current evidence for pharmacological therapies in myoclonus-dystonia, discuss implications for underlying pathogenesis of the condition and propose a treatment algorithm for these patients." 01/01/2020 - "A broad range of oral medical therapies have been used in the treatment of myoclonus-dystonia with a varying response, and limited data relating to efficacy and tolerability, yet this condition responds dramatically to alcohol. " 02/15/2021 - "Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child." 01/01/2017 - "Myoclonic dystonia (DYT11) responsive to insulin therapy: A case report." 12/01/2014 - "An adequately powered multi-center, double-blind study of tetrabenazine will be required to determine the relative contributions of tetrabenazine therapy to myoclonus, dystonia, quality of life, and activities of daily living in patients with M-D."
5.	Electrodes (Electrode) 07/01/2005 - "A patient with myoclonus-dystonia syndrome was treated by implanting electrodes in the internal segment of the globus pallidus (GPi) and applying deep brain stimulation. " 12/01/2004 - "We studied seven patients who underwent deep brain stimulation (DBS) electrode implantation in the thalamus for treatment of tremor (six patients) and myoclonus-dystonia (one patient). " 12/01/2004 - "The electrodes were sourced from two patients with Parkinson's disease, one with myoclonic dystonia, two with cervical dystonia and five with primary generalized dystonia, and had been in situ for 11 and 31 months (Parkinson's disease), 16 months (myoclonic dystonia), 14 and 24 months (cervical dystonia) and 3-24 months (primary generalized dystonia). "