Fukutin-related limb-girdle muscular dystrophy R13

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Synonyms: Autosomal recessive LGMD type 2M | Autosomal recessive limb-girdle muscular dystrophy type 2M | Fukutin-related LGMD R13 | LGMD type 2M | LGMD2M

A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses) cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves thighs and triceps have also been reported in some cases.

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 May 2026

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Fukutin-related limb-girdle muscular dystrophy R13?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign 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 to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

CDG CARE

Our mission is to promote greater awareness and understanding of CDG, to provide information and support to families affected by CDG, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG.

HeartCharged

Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.

website Location: Global

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.

LGMD2D Foundation

Formed in September 2013, the LGMD2D Foundation is a registered 501(c)3 non-profit foundation built for families living with LGMD2D. Our mission is to expedite the development of treatments or a cure for LGMD, type 2D / R3. We educate patients/caregivers, own the only international LGMD2D registry, raise awareness, fund research for treatments, and partner to advocate for LGMD2D. lgmd2d.org

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Muscular Dystrophy Pakistan

Muscular Dystrophy Pakistan is a patient-led nonprofit organization dedicated to raising awareness, promoting early diagnosis, supporting affected families, and advocating for equitable healthcare access for individuals living with muscular dystrophies and other rare genetic diseases across Pakistan, especially in underserved communities.

RareDNA Foundation

Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.

Uganda Alliance of Patients Organization

Supporting patients to access quality, safe and patient-centered healthcare services.

website Location: Local Local

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Clinical Trials

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