A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up
Yu-Ting Ma1, Ju-Li Lin1, Ming-Wei Lai2,3,4
1Department of Pediatrics, Division of Genetics and Pediatric Endocrinology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Insights
Infantile reversible cytochrome c oxidase deficiency myopathy is a rare condition causing muscle weakness in infants. This rare mitochondrial myopathy can surprisingly improve over time, unlike other progressive mitochondrial disorders.
Area of Science:
- Mitochondrial Medicine
- Rare Diseases
- Pediatric Neurology
Background:
- Infantile reversible cytochrome c oxidase (COX) deficiency myopathy is a rare mitochondrial disorder.
- Onset typically occurs within the first three months of life, presenting with generalized muscle weakness and severe hypotonia.
- Unlike most mitochondrial myopathies that progress with age, this condition may exhibit spontaneous improvement.
Abstract:
Infantile reversible cytochrome c oxidase (COX) deficiency myopathy is a mitochondrial rare disease with onset age of first day to three months with symptoms of generalized muscle weakness and severe hypotonia. Despite its initial serious conditions, the symptoms may improve spontaneously later in their life, with the so-called "benign" myopathy accordingly. This benign mitochondrial myopathy might be improved in their later life, which is different from most mitochondrial myopathies with progression by age. Therefore, we depicted the rare case of her clinical course during our medical practice, anticipating to provide more information of this rare disease.
