Dysferlin-related limb-girdle muscular dystrophy R2
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2B | Dysferlin-related LGMD R2 | LGMD due to dysferlin deficiency | LGMD type 2B | LGMD2B | Limb-girdle muscular dystrophy due to dysferlin deficiency | Limb-girdle muscular dystrophy type 2B
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
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 2023.
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Dysferlin-related limb-girdle muscular dystrophy R2?
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Advocacy Organizations
Cure Rare Disease
Developing a novel drug development framework to allow for the creation of treatments for rare and ultra-rare genetic neuromuscular conditions.
LGMD Awareness Foundation, Inc.
An advocacy organization dedicated to globally raising awareness of the rare neuromuscular diseases known as limb-girdle muscular dystrophy (LGMD). Our focus is to provide curated educational information and resources for the LGMD community - aiming to assist in advancing their genetic diagnosis, care, and treatment. We also coordinate an annual worldwide LGMD Awareness Day on September 30.
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 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.
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 Inc
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.
Inclusive Skating
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
Our Odyssey Inc.
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.
Patient Advocate Foundation
Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.
Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
Rare Disorders Kenya
Provide a strong common voice to advocate for a rare disease health policy and a better healthcare system that works for those with rare diseases
Clinical Trials
For a list of clinical trials in this disease area, please click here.