Combined oxidative phosphorylation defect type 13
Synonyms: COXPD13
Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding dysphagia truncal (followed by global) hypotonia motor regression abnormal movements (i.e. severe dystonia of limbs choreoathetosis facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Combined oxidative phosphorylation defect type 13?
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Advocacy Organizations
The Mito Foundation
Mito Foundation is Australia’s peak body dedicated to supporting and empowering people affected by mitochondrial disease (mito). Our mission is to be the catalyst of energy, hope and cures for every Australian impacted by mito. Mito is a debilitating genetic disorder that robs the body’s cells of energy, causing single or multiple organ dysfunction or failure, and in many instances death.
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Clinical Trials
For a list of clinical trials in this disease area, please click here.