The idea for the Standard Neuromuscular Disease (sNMD) dataset originated from the TREAT-NMD Ultra-Rare Subgroup (now known as the sNMD subgroup), led at the time by Robin Forbes (Australian Neuromuscular Disease Registry) and Jo Bullivant (former curator of the Myotubular & Centronuclear Myopathy Patient Registry). Initially proposed in 2021, the dataset aimed to address the lack of standardisation across registries collecting data on neuromuscular diseases without a dedicated dataset—particularly ultra-rare and undiagnosed conditions. The goal was to enable these registries to participate in global TREAT-NMD enquiries and improve visibility within the research and clinical communities.
Following positive feedback, the scope was expanded beyond ultra-rare conditions to include any neuromuscular disease not yet covered by a disease-specific dataset. The dataset was designed to:
- Standardise data already being collected
- Be feasible for registries with limited resources
- Align with existing TREAT-NMD datasets
- Support research, clinical trials, and engagement with industry
The dataset applies to a broad patient population, including individuals with confirmed genetic diagnoses, carriers of recessive disorders, and those with clinical or undiagnosed neuromuscular symptoms.
Version 1.0 includes:
- 57 unique data items
- 38 mandatory items for clinician-reported registries
- 27 mandatory items for patient-reported registries
- 13 defined categories
- Examples, data rules, and implementation guidance
We encourage all relevant registries to implement the sNMD dataset to support consistency and alignment with future TREAT-NMD enquiries and datasets. It has been designed to work well alongside both current and future disease-specific datasets, making it easier to combine or update data without needing major changes.
You can access the full dataset, including detailed item descriptions and downloadable formats (PDF and Excel), via the online dataset specification tool:
https://datasets.treat-nmd.org/snmd
If you have any questions or need support with implementing the sNMD dataset, please contact Farjana.ali@treat-nmd.com. Additionally, if you are planning to adopt the dataset in your registry, we would greatly appreciate it if you could let us know.
