AI Article Synopsis
- The study focuses on the clinical characteristics of mitochondrial myopathy beyond the commonly known chronic progressive external ophthalmoplegia (CPEO).
- Researchers collected data from patients with primary mitochondrial myopathy who primarily exhibited myopathic symptoms, excluding other known mitochondrial syndromes.
- Results revealed three subtypes of mitochondrial myopathy: CPEO, CPEO with limb-girdle muscle weakness (LGMW), and isolated LGMW, with isolated LGMW showing more severe progression and additional systemic issues.
Article Abstract
Objectives: Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, clinical data on predominant myopathic presentation of mitochondrial disorders are lacking.
Materials And Methods: Clinical, electrophysiological, biochemical, and follow-up data of patients with predominant myopathic presentation and muscle biopsy confirmed primary mitochondrial myopathy was obtained. We excluded known syndromes of mitochondrial cytopathies and encephalomyopathies.
Results: Among 16 patients, 7 had CPEO, 4 had CPEO with limb-girdle muscle weakness (LGMW), and 5 had isolated LGMW. Systemic features included seizures with photosensitivity (n = 3), diabetes (n = 1), cardiomyopathy (n = 1), and sensorineural hearing loss (n = 1) and were more common in isolated LGMW. Elevated serum creatine kinase (CK) and lactate levels and electromyography (EMG) myopathic potentials were more frequent with LGMW. During follow-up, LGMW had more severe progression of weakness.
Conclusion: We identified three subsets of mitochondrial myopathy with distinct clinical features and evolutionary patterns. Isolated LGMW was seen in 30% of patients and would represent severe end of the spectrum.
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| http://dx.doi.org/10.4103/0028-3886.391399 | DOI Listing |
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