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Limb-girdle muscular dystrophy: clinical and pathologic reevaluation
Y Yamanouchi1, E Arikawa, K Arahata
1Department of Ultrastructural Research, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Journal of the Neurological Sciences
|March 1, 1995
Summary
Limb-girdle muscular dystrophy (LGMD) presents diverse clinical and pathological features, with many cases lacking clear inheritance patterns. Muscle biopsies reveal architectural changes, including unique lobulated fibers in advanced LGMD.
Area of Science:
- Neurology
- Pathology
- Genetics
Background:
- Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders.
- Accurate diagnosis and understanding of LGMD pathogenesis are crucial for patient management.
- Previous studies often focused on specific genetic subtypes, leaving a broader clinical and pathological definition incomplete.
Purpose of the Study:
- To comprehensively define limb-girdle muscular dystrophy (LGMD) by examining clinical and pathological characteristics.
- To investigate the inheritance patterns and disease progression in a cohort of LGMD patients.
- To identify unique pathological features in muscle biopsies associated with LGMD.
Main Methods:
- Clinical assessment of 58 patients meeting LGMD criteria.
- Pathological examination of muscle biopsies, including histopathology and immunohistochemistry.
- Analysis of dystrophin expression and associated proteins (DAPs) and laminin.
Main Results:
- Only 27.6% of patients exhibited clear evidence of inheritance.
- Disease onset ranged from 2 to 58 years (average 17.2 years), with variable progression.
- Muscle biopsies showed moth-eaten (100%), lobulated (40%), whorled (17%), and targetoid (8%) fibers, alongside necrosis and regeneration. Lobulated fibers, not seen in Duchenne muscular dystrophy (DMD), appeared in advanced LGMD stages.
- Dystrophin-associated proteins (DAPs) and laminin showed normal sarcolemmal expression, even in lobulated fibers.
Conclusions:
- LGMD exhibits significant clinical and pathological heterogeneity, often with unclear inheritance.
- Distinctive muscle fiber architectural changes, such as lobulated fibers, characterize LGMD.
- Normal expression of DAPs and laminin suggests LGMD pathogenesis may involve pathways distinct from those affected in DMD.