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LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into TRAPPC11
Yen-Ting Chou1, Hsiao-Ping Chou2, Yu-Wei Chen2
1Department of Pediatrics, Yonghe Cardinal Tien Hospital, New Taipei City 234, Taiwan.
Diagnostics (Basel, Switzerland)
|June 12, 2026
Summary
Limb-girdle muscular dystrophy R18 can mimic Wilson disease, presenting with liver issues and muscle weakness. Longitudinal thigh MRI revealed characteristic fatty infiltration patterns in this rare genetic disorder.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Limb-girdle muscular dystrophy R18 (LGMD R18) is a rare autosomal recessive disorder.
- It can present with muscular and hepatic involvement, causing diagnostic challenges.
- Longitudinal MRI data in pediatric LGMD R18 are limited.
