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.
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 a global community of individuals, caregivers, healthcare professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related conditions. We are proudly working to provide global learning conferences, collaborative research and education initiatives, awareness campaigns, advocacy, community-building, and care for the EDS and HSD population: Giving HOPE to all those whose lives are 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 supports community-based fundraising for people with unmet medical expenses and related costs due to organ transplants or catastrophic injuries or illnesses. For 38 years, Help Hope Live has been showing clients and families how to bring together a network of relatives, friends, and neighbors in fundraising efforts to help cover the cost of uncovered medical expenses. These efforts play a critical role in helping our clients recover and maintain their health and independence. Since 1983, we have helped thousands of people raise millions of dollars for Help Hope Live to pay a wide range of expenses, including out-of-pocket costs for: medications, durable medical equipment, home health care, wheelchair-accessibility modifications, physical therapy, innovative treatments, medical travel and temporary relocation, even emergency living assistance. Our program has also helped thousands pay it forward and assist others with their medical expenses. Annually, we help place medical care within reach of about 5,000 families across the nation.
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
Creating Adaptive clothing for people with disabilities to feel confident within our own skin.
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.
Center for Chronic Illness
The Center for Chronic Illness (CCI) promotes well-being and decreases isolation for those impacted by ongoing health challenges through support and education.
TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.
Rare Disease Ghana Initiative
To improve the wellbeing and quality of life of persons living with undiagnosed and rare diseases in Ghana
Connecting young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life.
Jamal’s Helping Hands
Jamal's Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.
For a list of clinical trials in this disease area, please click here.