Objective: To describe clinical presentations, diagnostic challenges and management outcomes of a series of early onset dystonia patients attending a neurology clinic in Northern Pretoria, South Africa.
Background: Dystonia remains an under researched and debilitating condition that has complex pathophysiological mechanisms that give rise to difficulties in diagnosis and management especially in the young population where it causes long term disability that often impairs their lifestyle profoundly. With the emerging invasive and non-invasive therapies for movement disorders therapies that target specific dystonia subtypes, it becomes important to investigate clinical presentations, diagnostic and management setbacks in under-represented populations.
Method: This will be a descriptive prospective cross sectional study. Patients will be recruited from the botox and outpatient neurology clinic at Dr George Mukhari Academic Hospital. Diagnosis will be done by two consultant neurologists and a resident. Demographic and clinical information will be taken as well as past information from medical records. Consented videos from patients will be taken using a dedicated smartphone for out of clinic clinical descriptions. Data will be analysed using SPSS version 22 and descriptive statistics will be presented in tables and figures and associations for univariate analysis presented in chi-square or t-tests using a 95% confidence interval and p-value of 0.05.
Results: This study is still in progress and will be completed before the end of August 2026. The preliminary data shows variable response to botulinum toxin for segmental and focal dystonias in the young and a poor response to medications such as benzodiazepines and levodopa.
Conclusion: Clinical classification of dystonia presentations help in selecting patients that will respond to various management protocols. Botulinum toxin appears to have little added benefit in management of generalized forms of early onset dystonia. Added genetic analysis using whole genome sequencing and other targeted dystonia panels will help further classify cases that will have good response to deep brain stimulation.
To cite this abstract in AMA style:
E. Assey, V. Mabasa, D. Magazi. The Clinical Profile and Management outcomes of Early-Onset Dystonia in a South African Population [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/the-clinical-profile-and-management-outcomes-of-early-onset-dystonia-in-a-south-african-population/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/the-clinical-profile-and-management-outcomes-of-early-onset-dystonia-in-a-south-african-population/