Key Takeaway
Seven FKRP diagnoses among 87 people evaluated for LGMD illustrate the value of molecular confirmation when clinical presentations overlap.
Evidence Summary
LGMD2I in a North American population
A genetic screening study identifying FKRP-related LGMD in two North American referral cohorts.
cohortGeneticsDiagnosisClinicians
Citation: Kang PB, Feener CA, Estrella E, et al. LGMD2I in a North American population. BMC Musculoskelet Disord. 2007;8:115.
Main findings
- Screening cohorts of 63 and 24 people identified four and three FKRP-related LGMD cases, respectively.
- Six affected participants were homozygous for c.826C>A; the seventh carried two different FKRP variants.
- Six had relatively mild presentations. One had onset before age three and an uncertain subsequent course; all seven were ambulatory at their last reported follow-up.
Practical relevance
- Offers historical context for including FKRP in the differential diagnosis of LGMD.
- Does not determine which modern genetic testing approach is appropriate for an individual.
Limitations and cautions
- Referral cohorts cannot estimate prevalence across North America.
- Some participants had not undergone cardiac or respiratory screening, limiting complication estimates.
- This 2007 diagnostic study does not establish individual prognosis or a surveillance schedule.
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Paper Summary
Fukutin-Related Protein: From Pathology to Treatments
Review article mapping FKRP biology, disease mechanisms, model systems, and the treatment approaches that were emerging by 2021.
Glossary
Genotype-phenotype correlation
The relationship between a genetic variant pattern and the clinical features seen in a person or group.
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.