Glossary
A group of disorders caused by problems in alpha-dystroglycan glycosylation, including diseases linked to FKRP.
Meaning in FKRP
Dystroglycanopathies are inherited conditions in which alpha-dystroglycan is not glycosylated correctly. The clinical spectrum ranges from severe congenital disease with brain or eye involvement to later-onset muscular dystrophy. FKRP-related disease is one part of that broader category.
Primary Sources
Early source connecting FKRP variants to severe congenital dystroglycanopathy phenotypes.
Review article summarizing the broader FKRP disease spectrum and mechanism.
Related Content
Guide
FKRP is a gene involved in alpha-dystroglycan glycosylation. Pathogenic variants in FKRP can cause a spectrum of muscular dystrophy-dystroglycanopathies, ranging from severe congenital presentations to later-onset limb-girdle disease.
Guide
FKRP-related disease can involve skeletal muscle, motor development, cardiac function, respiratory function, and in some severe congenital presentations, broader neurologic or structural findings. The pattern is variable, which is why the site treats phenotype as a spectrum.
Paper Summary
Pediatric case-based paper describing severe congenital FKRP disease with eye and brain involvement and comparing that presentation with previously reported FKRP cases.
Glossary
A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.
Paper Summary
Review article mapping FKRP biology, disease mechanisms, model systems, and the treatment approaches that were emerging by 2021.
Glossary
The relationship between a genetic variant pattern and the clinical features seen in a person or group.