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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 Park^1,2

¹Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

|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

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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.