ISPD-related limb-girdle muscular dystrophy R20
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2U | ISPD-related LGMD R20 | LGMD type 2U | LGMD2U | Limb-girdle muscular dystrophy type 2U
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers’ sign and is associated with elevated creatine kinase levels hyporeflexia joint and achilles tendon contractures and muscle hypertrophy usually of the thighs calves and/or tongue. Other highly variable features include cerebellar cardiac and ocular abnormalities.
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 2024
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ISPD-related limb-girdle muscular dystrophy R20?
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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.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
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