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Myopathy with trabecular muscle fibers
B Weller1, S Carpenter, H Lochmüller
1Technion, Haifa, Israel.
Neuromuscular Disorders : NMD
|July 10, 1999
Summary
This study identifies trabecular fiber myopathy, a rare condition characterized by specific muscle pathology and limb-girdle weakness. Its distinctive features aid in diagnosing this non-inflammatory myopathy.
Area of Science:
- Neurology
- Muscle Pathology
Background:
- Non-inflammatory myopathies represent a diverse group of neuromuscular disorders.
- Accurate diagnosis relies on detailed clinicopathological correlation.
Observation:
- A 15-year systematic review identified 21 cases (7%) of trabecular fiber myopathy.
- This condition presents with a limb-girdle clinical phenotype and distinctive myopathology.
Findings:
- Muscle pathology is dominated by trabecular/lobulated fibers (20-90%) with intermyofibrillar mitochondrial maldistribution.
- This results in a lobulated oxidative enzyme activity pattern on transverse sections.
- Clinically, it features adult-onset, slowly progressive proximal limb weakness, with distal involvement in 60%.
Implications:
- The trabecular pattern suggests a potential defect in mitochondrial anchoring mechanisms.
- Trabecular fiber myopathy is a distinct clinico-pathological entity, despite potential etiological heterogeneity.
- This finding aids in the differential diagnosis of myopathies with limb-girdle weakness.