Combined oxidative phosphorylation defect type 7
Synonyms: COXPD7 | Severe C12ORF65-related COXPD | Severe C12ORF65-related combined oxidative phosphorylation defect
Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development) as well as ocular manifestations (such as ptosis nystagmus optic atrophy ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness hypotonia difficulty chewing dysphagia mild dysarthria ataxia global muscle atrophy and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Combined oxidative phosphorylation defect type 7?
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.
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To fund research for treatment and/or a cure for CASK Gene Disorder
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
For a list of clinical trials in this disease area, please click here.