Indian Rare Movement Disorders Consortium

Rare movement disorders (RMDs) encompass a diverse group of neurological conditions characterized by abnormal involuntary movements such as tremors, dystonia, myoclonus, chorea, and parkinsonism. These disorders, though individually uncommon, as a group are frequent and pose significant diagnostic and therapeutic challenges due to their heterogeneity and rarity.

Many rare movement disorders have genetic underpinnings, necessitating advanced molecular diagnostics. However, not all rare movement disorders have a genetic basis; many arise from autoimmune, infectious, toxic, metabolic, or neurodegenerative causes. These disorders often present diagnostic challenges due to their rarity and diverse aetiologies. Next-generation sequencing (NGS) has revolutionized the identification of novel genes linked to these conditions, enabling better classification and targeted therapies. Gene therapy, enzyme replacement therapy, and precision medicine approaches are emerging as potential treatments for select genetic disorders. Despite advances, challenges remain in recognizing these conditions due to their overlap with more common movement disorders.

Multidisciplinary care, including neurology, genetics, physiotherapy, and neurorehabilitation, is essential for optimizing patient outcomes. International collaborations, patient registries, and advocacy efforts are crucial in driving research and improving access to novel therapies. Continued efforts in genetics, neurophysiology, and therapeutics hold promise for better understanding and managing these rare but debilitating disorders.

Indian Rare Movement Disorders Consortium

Recognizing the challenges faced in managing rare movement disorders (RMDs) by both affected families and healthcare professionals, a group of experts with a shared interest in RMDs established a consortium in June 2020. In 2024, this consortium became an integral part of the Movement Disorders Society of India (MDSI).

This consortium was formed with a vision to establish a robust Indian Rare Movement Disorders Consortium (IRMDC) dedicated to advancing research, diagnostics, and treatment for rare movement disorders. By fostering multidisciplinary collaboration, genetic discoveries, and patient advocacy, we aim to improve early diagnosis, enhance therapeutic options, and ensure better care for affected individuals across India.

Objectives:

  1. To study the epidemiology and prevalence of Rare Movement Disorders in India
  2. To interact with other related disciplines and support groups who are involved in diagnosis, management and long term care of patients having RMDs
  3. To offer professional help and counselling to patients with RMDs and their caregivers
  4. To interact with Government, health authorities, voluntary organizations and NGOs for helping early diagnosis and management of patients suffering from RMDs, counselling and supporting the patients and their families and also preventing occurrence of RMDs
  5. To jointly apply for grants to Governmental, National and International funding bodies, philanthropists and pharmaceutical companies to conduct scientific studies and high quality publications in the discipline of RMDs
  6. To have a website
  7. To build resource material library to be freely accessed by from any part of world: -Database
    -Clinical photographs
    -Videos
    -Images
    -Genetics

Goals

Short-term goals

  • Review of literature of publications in India on RMDs
  • Members can form small interest groups
  • Topics forthcoming were neuroinfections, dystonia, ataxias, HSPs, Wilson's disease, NBIAs, neurometabolic disorders, chorea, atypical PDs, functional movement disorders, rare tremors, PSP, etc.
  • Enlist the RMDs relevant to India and which will be the focus of our study and activities.
  • Form a website

Long-term goals

  • In a few disorders, a National registry can be formed, but this needs a proper scientific proposal and the Institution's Ethics approval.
  • Each of us can start retrieving cases that clinically fall under RMDs, where no diagnosis could be made or were rejected when sent for publication. These cases can be made into a registry, have a new look, and even be published.
  • Build database and resource library

Activities under IRMDC so far

The Indian Rare Movement Disorders Consortium (IRMDC) has undertaken two major activities: yearly symposiums and monthly online video case discussions.

IRMDC Symposiums

Since 2021, three symposiums have been conducted under IRMDC, all endorsed by the Movement Disorders Society of India (MDSI).

  1. 1st IRMDC Symposium (27–28 February 2021) – Led by Dr. Hrishikesh Kumar and Dr. Sanjay Pandey, this virtual symposium focused on the phenomenological approach to genetic and non-genetic rare movement disorders (RMDs) relevant to the Indian population. It featured both international and Indian experts and was attended by over 100 participants.
  2. 2nd IRMDC Symposium (26–27 February 2022) – Organized by Dr. Achal Kumar Srivastava, Dr. Roopa Rajan, and the AIIMS New Delhi team, this virtual event was open to international participants and attracted over 100 attendees. The symposium received positive feedback for its engaging discussions.
  3. 3rd IRMDC Symposium (12–14 April 2024) – The first in-person symposium was hosted by Dr. Pramod Kumar Pal and the NIMHANS, Bengaluru team, drawing over 200 participants. This 2.5-day event emphasized a phenomenological approach to genetic RMDs. The final day featured a panel discussion on:
    • The role of MDS-AOS and MDSI in RMDs within the MDS-AOS region.
    • Research and training in RMDs.
    • Advocacy and support groups for RMD patients.
    Supported by MDS, the symposium included:
    • 30 lectures
    • 6 interactive video-based case discussions (3–4 cases per session)
    • An interactive quiz
    • Poster presentations
    • Clinical grand rounds
    • Two international speakers funded by MDS

Monthly Online Video Case Discussions

Since 2022, IRMDC has hosted monthly online video case discussions on the second Tuesday of each month via Zoom. These sessions provide a platform for discussing challenging RMD cases, including both diagnosed and undiagnosed cases with exhaustive investigations.

Each session includes 2–3 cases, with experts analyzing:

  • Phenomenology and differential diagnoses
  • Interpretation of investigations, including genetic reports
  • Diagnostic and therapeutic challenges
  • Holistic patient care

These discussions have been well received, offering valuable learning opportunities for budding neurologists, movement disorder specialists, and RMD experts alike.