Category: Dystonia: Pathophysiology, Imaging
Objective: Introduction
Tremor in multiple sclerosis (MS) has traditionally been thought to be a feature of advanced disease and pathophysiology of MS tremor is known to be complex.
We present a case of segmental dystonic tremor and ataxia as presenting symptoms of MS.
Case
A 34 year old female with 10 year history of head tremor suffered progression of her symptoms over 12 months, accompanied by new upper limb tremor, voice changes and gait difficulties. She had type 1 diabetes, no systemic complaints or visual symptoms and no family history of neurological disease.
Examination revealed dystonic head posturing with right torticollis, a null point to the left, no-no head tremor and sternocleidomastoid hypertrophy bilaterally. No geste antagonist was evident. There was an asymmetric postural and kinetic hand tremor, predominantly affecting the right, with intention tremor and mini myoclonus on the right. She had an ataxic gait and dysarthric speech.
MRI head indicated extensive demyelinating disease with involvement of the bilateral middle cerebellar peduncles, left superior cerebellar peduncles and bilateral thalamic involvement. There was evidence of enhancement and T1 black holes.
Lumbar puncture demonstrated a lymphocytosis with raised protein (0.75) and type 2 oligoclonal bands. Viral PCR was negative.
A diagnosis of persistent segmental dystonia and ataxia related to MS was made. Neuroinflammatory follow up suggested a primary progressive phenotype (EDSS: 5) and she is for consideration of disease modifying therapies. Treatment of the dystonia included botulinum toxin and trihexphenidyl, following no response to propranolol. She is being considered for deep brain stimulation.
Discussion
Movement disorders are not traditionally considered presenting symptoms in MS 1. Dystonic tremor is a rare presenting symptom in MS, although dystonic head tremor and ataxia is seen in advanced disease 2 and there are reports of dystonic features associated with upper limb MS tremor 3. The finding of cerebellar dysfunction and dystonia in this patient suggests a pathophysiological process within the cerebello-pallido-thalamo-cortical tract. The ventrointeromedial nucleus of the thalamus remains the most common target for DBS in dystonia, although controlled studies are lacking 4.
Background: Please find complete case report abstract in Objectives.
Method: As above
Results: As above
Conclusion: As above
References: 1. Abboud, Yu et al. Movement disorders in early MS and related diseases. Neurol Clin Pract 2019. Feb; 9 (1): 24-31. PMID: 30859004 2. Alusi, Worthington et al. A study of tremor in multiple sclerosis. Brain 2000, 124: 720-730. 3. Van der Walt, Buzzard et al. The occurrence of dystonia in upper limb multiple sclerosis tremor. Multiple Sclerosis Journal. 2015. https://doi.org/10.1177/1352458515577690 4. Makhoul, Ahdab et al. Tremor in multiple sclerosis – an overview and future perspectives. Brain Sci. 2020 Oct; 10 (10): 722. PMID 33053877
To cite this abstract in AMA style:
S. Healy, V. Bharambe, D. Damodaran. Dystonic tremor and ataxia as presenting symptoms of multiple sclerosis [abstract]. Mov Disord. 2021; 36 (suppl 1). https://www.mdsabstracts.org/abstract/dystonic-tremor-and-ataxia-as-presenting-symptoms-of-multiple-sclerosis/. Accessed December 9, 2024.« Back to MDS Virtual Congress 2021
MDS Abstracts - https://www.mdsabstracts.org/abstract/dystonic-tremor-and-ataxia-as-presenting-symptoms-of-multiple-sclerosis/