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SANDO: another presentation of mitochondrial disease
Michael S Okun1, M Tariq Bhatti
1Department of Neurology, University of Florida College of Medicine, Box 100284, Gainesville, FL 32610, USA.
American Journal of Ophthalmology
|May 6, 2004
Summary
This case report highlights Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO), a rare mitochondrial syndrome. Early recognition of this condition is crucial for patients with ophthalmoplegia and neurological symptoms.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- Mitochondrial disorders are a heterogeneous group of genetic diseases.
- Ocular manifestations are common in mitochondrial diseases.
Observation:
- A 43-year-old man presented with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO).
- Clinical presentation included ocular motor dysfunction and sensory symptoms.
Findings:
- Nerve conduction studies revealed a sensory ganglionopathy.
- Skeletal muscle biopsy demonstrated ragged red fibers.
- Mitochondrial DNA deletions were identified in muscle tissue.
Implications:
- Mitochondrial disease should be considered in patients with external ophthalmoplegia, sensory ganglionopathy, and dysarthria.
- This case expands the spectrum of known mitochondrial syndromes.
- Further research into SANDO and related mitochondrial disorders is warranted.