Objective: To describe the clinical profile, etiology and treatment profile of myoclonus dystonia patients attending a single movement disorder clinic.
Background: Myoclonus-dystonia (MD) is a distinct clinical syndrome that falls under the umbrella of “combined dystonia” with a wide range of genetic and acquired etiologies. Despite the fact that the prototype of myoclonus-dystonia is characterized by an epsilon-sarcoglycan gene, it is imperative to consider other acquired conditions, both degenerative and non-degenerative, that present with this combination of symptoms.
Method: A search of the outpatient movement disorder registry (2022-2024) identified 36 patients with MD undergoing regular follow-up. A predesigned proforma was utilized to meticulously document the demographic and clinical characteristics of the patients, in addition to details pertaining to their treatment regimens. Video recordings of the phenomenology were also prepared.
Results: Median age of the cohort was 18 years (IQR 29.25) and mean duration of the disease was 7.3 years (SD 6.7). In the present cohort, the majority of patients had an acquired etiology (n-15, 41.6%). Of these, nine patients had subacute sclerosing panencephalitis (SSPE), five patients had corticobasal syndrome (CBS) and one patient had progressive multifocal leukoencephalopathy (PML). Genetic causes were identified in eight patients, among which five patients had a pathogenic or a likely pathogenic mutation and three patients had a variant of uncertain significance, whereas 13 patients had an unidentified etiology. Levodopa- carbidopa, trihexyphenydyl, clonazepam, tetrabenazine, baclofen, botulinum toxin, levetiracetam and valproic acid were the agents used for the medical management. A notable proportion of the patient cohort (n = 20) had disease progression despite receiving optimal medical treatment(Table 1).
Conclusion: Most patients our cohort had acquired conditions, with SSPE and CBS being the main causes of myoclonus dystonia.
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References: 1. Chouksey A, Pandey S. A Clinical Approach to the Patients with Combination of Dystonia and Myoclonus. Annals of Movement Disorders. 2022 May 1;5(2):81-92.
To cite this abstract in AMA style:
F. Mustafa, A. Mudda, A. Agarwal, A. Srivastava, D. Garg, A. Garg. Insights into Myoclonus Dystonia from an Indian movement disorder clinic [abstract]. Mov Disord. 2025; 40 (suppl 1). https://www.mdsabstracts.org/abstract/insights-into-myoclonus-dystonia-from-an-indian-movement-disorder-clinic/. Accessed November 20, 2025.« Back to 2025 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/insights-into-myoclonus-dystonia-from-an-indian-movement-disorder-clinic/