Titin-related limb-girdle muscular dystrophy R10
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2J | LGMD type 2J | LGMD2J | Limb-girdle muscular dystrophy type 2J | Titin-related LGMD R10
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
Newly diagnosed with
Titin-related limb-girdle muscular dystrophy R10?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Team Titin
Team Titin is a consortium of scientists and affected community members. Our goal is to support families and serve as a catalyst for researchers and clinicians to develop a better understanding of Titin related disorders leading ultimately to a cure.
LGMD Awareness Foundation, Inc.
To globally raise awareness of the rare neuromuscular diseases known as limb-girdle muscular dystrophy
Girls Chronically Rock
Creating Adaptive clothing for people with disabilities to feel confident within our own skin.
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
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.