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Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study.
Soo-Hyun Kim1, Yunjung Choi1, Hyung Jun Park1,2
1Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Plos One
|April 13, 2026
Summary
ADSS1 myopathy, a rare genetic muscle disorder, shows varied symptoms but consistent distal muscle damage on MRI. This suggests a unified disease process despite clinical differences, highlighting MRI
Area of Science:
- Neurology
- Genetics
- Muscle Diseases
Background:
- ADSS1 myopathy is a rare, autosomal recessive muscle disease caused by mutations in the ADSS1 gene, crucial for purine nucleotide synthesis.
- First identified in Korean patients in 2016, it presents with variable clinical symptoms, making diagnosis challenging.
Purpose of the Study:
- To investigate the clinical and radiological characteristics of ADSS1 myopathy in the largest Korean cohort to date.
- To explore the correlation between clinical presentation and muscle MRI findings.
- To establish ADSS1 myopathy as a unified disease entity based on consistent pathological patterns.
Main Methods:
- Retrospective cohort study of 30 genetically confirmed ADSS1 myopathy patients (2002-2024).
- Classification into proximal-onset and distal-onset groups.
- Clinical assessments, genetic analysis, and muscle MRI in 10 patients.
Main Results:
- Median onset age 8.0 years; median disease duration 24.0 years.
- Common symptoms include slow running, fatigue, gait disturbance, facial, and oropharyngeal dysfunction.
- Muscle MRI consistently showed preferential involvement of distal lower limb muscles (gastrocnemius, soleus), irrespective of clinical onset.
Conclusions:
- Despite clinical heterogeneity, ADSS1 myopathy exhibits a consistent distal muscle involvement pattern on MRI.
- Muscle MRI is a valuable diagnostic tool, revealing a predictable anatomical distribution of pathology.
- Findings support ADSS1 myopathy as a unified disease with selective muscle vulnerability linked to metabolic demands.
