Topic Hub
Diagnosis
Use this hub when readers need help connecting evolving diagnostic terms, clinical framing, and the evidence base behind them.
Guides
Start with the site-level reference pages that define this topic.
Guide
What Is FKRP?
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
Genetics
FKRP-related disease is usually discussed as an autosomal recessive condition, but interpretation still depends on variant classification, clinical context, and how individual findings fit the wider phenotype.
Guide
For Families
This page is the family-friendly entry point into the FKRP site. It is designed to help non-specialists understand the main ideas quickly, know which questions are worth bringing to clinic, and move from confusion toward a structured understanding of the condition.
Guide
For Clinicians
This page is a clinician-facing orientation route through the FKRP site. It is designed to support rapid review by focusing on the disease spectrum, monitoring domains, and source-linked follow-up pages rather than broad generic neuromuscular background.
Papers
Use the paper summaries for dated evidence and limitations.
Paper Summary
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations
Pediatric case-based paper describing severe congenital FKRP disease with eye and brain involvement and comparing that presentation with previously reported FKRP cases.
Paper Summary
LGMD2I in a North American population
Genotype-phenotype paper showing that FKRP-related LGMD can be present and clinically varied in North American cohorts, not only in founder populations from Northern Europe.
Paper Summary
The phenotype of limb-girdle muscular dystrophy type 2I
Foundational phenotype paper demonstrating that cardiopulmonary complications can be prominent in FKRP-related LGMD even when skeletal muscle weakness appears comparatively limited.
Glossary
Use the terminology layer to anchor naming and search language.
Glossary
Genotype-phenotype correlation
The relationship between a genetic variant pattern and the clinical features seen in a person or group.
Glossary
LGMD2I
An older diagnostic label commonly used in the literature for FKRP-related limb-girdle muscular dystrophy.
Glossary
LGMDR9
The current limb-girdle muscular dystrophy naming convention most often used for later-onset FKRP-related disease.