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[Late myopathy with mitochondrial changes in the muscle]
Acta Bio-Medica De L'Ateneo Parmense : Organo Della Societa Di Medicina E Scienze Naturali Di Parma
|January 1, 1981
Summary
Abnormal muscle mitochondria were found in a 49-year-old man with late-onset myopathy and polyneuropathy. This case highlights the complex, multisystemic involvement associated with mitochondrial myopathies.
Area of Science:
- Neurology
- Mitochondrial Biology
- Genetics
Background:
- Abnormal muscle mitochondria are linked to various conditions, often presenting with ophthalmoplegia or "floppy infant" syndrome.
- Late-onset proximal myopathy with mitochondrial abnormalities, especially without extraocular muscle involvement, is rare.
Observation:
- A 49-year-old man presented with late-onset proximal myopathy, polyneuropathy, subclinical thyroid dysfunction, cardiac conduction issues, and unilateral gynecomastia.
- Muscle biopsy revealed ultrastructural abnormalities in mitochondria.
Findings:
- The patient exhibited a rare combination of mitochondrial myopathy and multisystemic involvement, including neurological, cardiac, and endocrine deficits.
- The findings challenge the classification of such cases as a distinct nosological entity, suggesting potential non-specific mitochondrial changes due to muscular damage.
Implications:
- This case underscores the diverse clinical presentations of mitochondrial disorders.
- Further research into underlying biochemical defects or the role of coexisting conditions like thyroid dysfunction and neurogenic damage is warranted.
- Comparison with Kearns-Sayre syndrome suggests potential overlaps in multisystemic mitochondrial disease.