Key Takeaway
Respiratory and cardiac failure can be clinically important in FKRP-related LGMD and may be more severe than a casual review of limb weakness alone would suggest.
Evidence 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.
cohortRespiratoryPhenotypeFamilies
Citation: Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003;60(8):1246-1251.
Main findings
- Among 16 patients from 14 families, most adults were homozygous for the common C826A FKRP variant, while compound heterozygotes tended to present earlier and progress more severely.
- Ten patients had respiratory impairment and five required nocturnal respiratory support.
- Six patients had cardiac involvement, supporting the need for surveillance outside pure strength assessment.
Practical relevance
- Strong anchor paper for explaining why FKRP monitoring pages emphasize pulmonary and cardiac review, not just mobility.
- Helpful for clinicians, therapists, and families when discussing how complication burden may be disproportionate to visible skeletal-muscle decline.
Limitations and cautions
- The sample size was small and reflects an early era of FKRP phenotyping.
- The paper predates current nomenclature and modern supportive-care pathways.
- It is not a contemporary natural-history study and should not be read as a modern prevalence estimate.
Primary Sources
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Related Content
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Guide
Clinical Features
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
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Large modern natural-history cohort describing prevalence, genotype distribution, ventilatory support patterns, wheelchair use, and sex-associated differences in Norwegian LGMDR9.
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.