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 June 2024

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Fukutin-related limb-girdle muscular dystrophy R13?

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Advocacy Organizations

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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