Synonyms: LGMD type D4 | LGMD1I | Limb-girdle muscular dystrophy type D4
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness pain and wasting predominantly affecting the proximal leg lumbar paraspinal and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often but not always elevated and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable although most patients remain ambulatory.
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 April 2026
Newly diagnosed with
Calpain-3-related limb-girdle muscular dystrophy D4?
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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.
Cure Rare Disease
Developing a novel drug development framework to allow for the creation of treatments for rare and ultra-rare genetic neuromuscular conditions.
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Girls Chronically Rock
Girls Chronically Rock empowers and inspires people in the disability community through fashion, storytelling, and advocacy. Our mission is to create visibility, spark confidence, and promote inclusion by combining style with purpose.
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
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.
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.