Objective: To understand Multiple system atrophy (MSA) clinical phenotype from India.

Background: There is paucity of data from underrepresented populations including India, regarding the clinical and sociodemographic profile of MSA.

Method: MSA-IND is an observational multi-center registry, initiated across India, to provide an insight into novel clinical and genetic aspects of MSA. Currently 10 clinical centers under Parkinson Research Alliance of India (PRAI) and Medgenome Labs are participants of this consortium, with a target to recruit at least 300 MSA patients and equal number of age- and gender-matched healthy controls.

Results: Currently 51 MSA patients (M:F=31:20) have been enrolled. While the mean age at assessment was 59.4±8.9 years, that at onset was 56.4±9 years. The mean duration of illness was 31.9 months. The diagnostic certainty varied on MDS diagnostic criteria, with 41.2% having met Clinically established MSA-P, 37.3% with Clinically established MSA-C, 19.6% Clinically probable MSA-P, and 2% were suggestive of clinically probable MSA-C. Consanguineous parentage was noted in 3.9%. Family history of parkinsonism and ataxia was present in 9.8% and 1.9%, respectively. The initial symptom domain involved were – parkinsonism (45%), cerebellar (35%), and dysautonomia (18%). Among the initial presenting symptoms the most common were: Imbalance (25%), slowness in ADL (14%), Tremors (14%), Speech involvement (8%), Falls (6%), and dizziness (6%). Brain MRI findings included – Putamen atrophy (21%), Middle cerebellar atrophy (31%), Pons atrophy (37%), Cerebellum atrophy (47%), and Hot cross bun sign (35%).The mean total MDS-UPDRS score was 46.2 and mean UMSARS-I and II score was 19.7 and 21.6, respectively. UMSARS-III showed orthostatic features in 53% patients, and UMSARS-IV revealed that only 10% of patients were completely independent. ZBI score revealed that caregiver of 25% patients felt moderately-severe to severe burden. Although levodopa was not tried in 47% patients within two years of onset, but was used in rest, providing some benefit in 41% patients. We are awaiting funding for genetic assessment of the collected blood samples from our patients and age- and gender-matched healthy controls.

Conclusion: This large ongoing clinical registry of MSA  provides valuable information regarding the clinical phenotypes, and socio-demographic variations of the disease in the Indian subcontinent.

References: 1. Wenning GK, Stankovic I, Vignatelli L, et al. The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy. Movement Disorders. 2022;37(6):1131-1148. doi:10.1002/mds.29005

2. Köllensperger M, Geser F, Ndayisaba JP, Boesch S, Seppi K, Ostergaard K, Dupont E, Cardozo A, Tolosa E, Abele M, Klockgether T. Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry. Movement Disorders. 2010 Nov 15;25(15):2604-12.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/multiple-system-atrophy-india-msa-ind-registry/