Myopathic Ehlers-Danlos syndrome
Synonyms: EDS/myopathy overlap syndrome | Myopathic EDS
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age proximal joint contractures (knee hip elbow) and hypermobility of distal joints. Additional features include soft doughy skin atrophic scarring delayed motor development and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.
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 September 2023.
Newly diagnosed with
Myopathic Ehlers-Danlos syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Ehlers-Danlos Society
The Ehlers-Danlos Society is dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). We support the development of effective and equitable EDS and HSD therapies and work collaboratively to improve the lives of individuals affected by EDS and HSD.
Pathways To Trust
To elevate the patient's voice to increase access to care and eliminate bias by bringing stakeholders together.
Zebra CARE Initiative
To bring Charity, Access, Research, and Education (CARE) through and beyond the rare disease, disabled, and medically complex communities for a more inclusive and accessible medical system.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Ehlers-Danlos Syndromes New Zealand
Our Mission is to improve the wellbeing of those with Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders in Aotearoa New Zealand by raising awareness, improving knowledge by health professionals and providing support to patients.
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
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
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
For a list of clinical trials in this disease area, please click here.