FKRP-related limb-girdle muscular dystrophy R9

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FKRP-related limb-girdle muscular dystrophy R9

Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2I | FKRP-related LGMD R9 | LGMD due to FKRP deficiency | LGMD type 2I | LGMD2I | Limb-girdle muscular dystrophy due to FKRP deficiency | Limb-girdle muscular dystrophy type 2I

A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs) frequently associated with waddling gait scapular winging calf and tongue hypertrophy exercise-induced myalgia abdominal muscle weakness cardiomyopathy respiratory muscle involvement and myoglobinuria and/or elevated creatine kinase serum levels.

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 September 2023.

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Advocacy Organizations

CureLGMD2i Foundation

Limb Girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9) is a life limiting disease, which causes progressive muscle weakness mainly in the shoulder and hip areas. This is an ultra rare form of muscular dystrophy and over time, this excessive muscle wasting results in overall physical complications including loss of ambulation, cardiovascular, and respiratory complications. The CureLGMD2i Foundation

CureLGMD2i Foundation

Limb Girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9) is a life limiting disease, which causes progressive muscle weakness mainly in the shoulder and hip areas. This is an ultra rare form of muscular dystrophy and over time, this excessive muscle wasting results in overall physical complications including loss of ambulation, cardiovascular, and respiratory complications. The CureLGMD2i Foundation

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.

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

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

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.