Mitochondrial myopathy: a rare cause of early-onset vocal fold atrophy.

ABSTRACT

OBJECTIVES: We present the second published case of laryngeal involvement in mitochondrial myopathy. METHODS: A patient with laryngeal involvement of mitochondrial myopathy is presented, together with a literature review. RESULTS: A 41-year-old man presented with progressive breathy dysphonia. His brother had mitochondrial myopathy. Biopsy of the biceps muscle demonstrated cytochrome C oxidase-negative ragged blue fibers confirming mitochondrial myopathy. Videostroboscopy showed marked vocal fold atrophy, but subsequent injection laryngoplasty did not significantly improve the patient's voice, despite improved postoperative glottic closure. CONCLUSIONS: Mitochondrial myopathy should be considered in the differential diagnosis of severe early-onset vocal fold atrophy.