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Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases
A Ferreiro1, B Estournet, D Chateau
1INSERM U523/Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Annals of Neurology
|November 18, 2000
Summary
Multi-minicore disease (MmD) is a congenital myopathy. Researchers identified four distinct clinical subgroups, with a "classical" form showing axial weakness, respiratory issues, and scoliosis.
Area of Science:
- Neurology
- Muscle Diseases
- Congenital Myopathies
Background:
- Multi-minicore disease (MmD) is a congenital myopathy characterized by specific muscle fiber abnormalities.
- The clinical presentation and molecular basis of MmD remain poorly understood due to its variable expression and nonspecific lesions.
Purpose of the Study:
- To delineate the phenotypic characteristics of Multi-minicore disease.
- To identify distinct clinical subgroups within MmD.
Main Methods:
- Analysis of a cohort of 38 patients diagnosed with multiple minicores in muscle fibers.
- Classification of patients into subgroups based on clinical features.
Main Results:
- Four distinct clinical subgroups of MmD were identified.
- A prevalent "classical" form (30 patients) exhibited axial muscle weakness, severe respiratory insufficiency, and scoliosis.
- Other identified forms included pharyngolaryngeal involvement, antenatal onset with arthrogryposis, and slowly progressive weakness with hand amyotrophy.
- Consistent histological findings across all subgroups included Type 1 fiber predominance/hypotrophy and centrally located nuclei.
Conclusions:
- Multi-minicore disease presents significant phenotypic heterogeneity.
- A recognizable "classical" phenotype exists, aiding in diagnosis.
- This phenotypic classification is crucial for future research into the molecular causes of MmD.