Megaconial congenital muscular dystrophy
Synonyms: Congenital megaconial myopathy | Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect | Congenital muscular dystrophy with mitochondrial structural abnormalities
A rare genetic skeletal muscle disease characterized by an early-onset hypotonia muscle weakness global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.
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
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Megaconial congenital muscular dystrophy?
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Association Aux Pas du Coeur
Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning 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 so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Girls Chronically Rock
Girls Chronically Rock is a fashion brand for the disability community. The word "chronic" in its name is a reference to people living with chronic illnesses. The fashion line is a collection of apparel items for people living with disability with clothing specially designed for men and women. The company's mission is to create, motivate, encourage, inspire, and let people know that you rock and
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Moonshots for Unicorns
Curing single-gene disorders
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.