DNA2-related mitochondrial DNA deletion syndrome

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Synonyms: Mitochondrial DNA deletion syndrome with limb-girdle weakness | Mitochondrial DNA deletion syndrome with progressive myopathy | mtDNA deletion syndrome with limb-girdle weakness | mtDNA deletion syndrome with progressive myopathy

A rare genetic mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements congenital ptosis progressive external ophthalmoplegia hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.

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 June 2024

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DNA2-related mitochondrial DNA deletion syndrome?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

Cure Mito Foundation

Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.

CureARS

Our Mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare Mitochondrial Aminoacyl t-RNA Synthetase (mtARS) genes in order to pave the way to suitable treatment options and ultimately a cure.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

MitoAction

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

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.

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.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.