Evidence 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.

case reportCongenital DiseaseDiagnosisFamilies

Citation: Kava M, Chitayat D, Blaser S, et al. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. Pediatr Neurol. 2013;49(5):374-378.

Key Takeaway

FKRP-related disease can extend well beyond later-onset limb-girdle presentations, and rare severe congenital cases may include major eye and brain abnormalities.

Main findings

The report describes a 16-month-old boy with a Walker-Warburg syndrome phenotype linked to a novel FKRP mutation.
The authors compared the child’s eye and brain findings with prior published FKRP cases and noted that most reported FKRP patients had no or only mild eye involvement.
The case therefore helps define the severe end of the FKRP spectrum rather than the more common later-onset LGMD presentation.

Practical relevance

Important counterweight to adult-focused LGMD literature because it shows why public FKRP education needs spectrum language.
Useful for researchers and clinicians who need a citation when explaining that severe congenital phenotypes belong to the same gene-level landscape.

Limitations and cautions

This is a single severe case report and should not be used to estimate the frequency of eye or brain findings in FKRP disease overall.
It is mainly useful for spectrum definition, not for everyday monitoring decisions in typical later-onset LGMDR9.
Clinical severity in this report is not representative of the majority of FKRP-related LGMD cases.

Primary Sources