Clinical Characteristics of 30 Patients with ADSS1 Myopathy

30 patient records detailing clinical characteristics of ADSS1 myopathy, including comparisons between proximal and distal onset groups. The dataset was authored by Soo-Hyun Kim and last updated on April 13, 2026. Detailed MRI information for a subset of 10 patients is referenced in supplementary tables.

Use Cases

• Compare clinical presentation between proximal and distal onset groups based on the described patient characteristics.
• Analyze the distribution of clinical features (n (%) or median [interquartile range]) across the 30-patient cohort.
• Correlate clinical findings with MRI data for the 10 evaluated patients referenced in the supplementary tables.

Strengths

• Includes data for 30 patients with a specific rare disease (ADSS1 myopathy).
• Provides a direct comparison between two clinically distinct onset groups (proximal vs. distal).
• Contains supplementary MRI data for a subset of 10 patients, referenced in external tables.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is very small at 9.5 KB, indicating limited scope.

Provenance

Source

figshare, authored by Soo-Hyun Kim.

Collection Method

Clinical data collection from patients, likely from a single study or institution.

Time Range

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Freshness

Last updated 2026-04 13 17:24:57; freshness should be verified.

Geography

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