Topic Hub
Respiratory
Use this hub for FKRP-related respiratory context, including surveillance framing, sleep support language, and relevant source material.
Guides
Start with the site-level reference pages that define this topic.
Guide
Monitoring and Care
FKRP-related disease is usually managed through a multidisciplinary model. Monitoring is not only about neurology. Cardiology, pulmonology, sleep evaluation, rehabilitation, genetics, and practical family coordination all matter to safe long-term care.
Guide
For Physiotherapists
This page focuses on how physiotherapists and rehabilitation teams can orient themselves within FKRP-related disease without losing sight of the broader neuromuscular, cardiac, and respiratory context.
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.
Guide
Emergency Preparation
A neutral route for organizing current contacts, documents, support needs, and clinician-written instructions before an emergency. It does not supply a treatment protocol.
Guide
Physiotherapy
Physiotherapy in FKRP-related disease should turn the exercise evidence into age-aware, condition-aware plans that protect function, recovery, breathing, and participation.
Papers
Use the paper summaries for dated evidence and limitations.
Paper Summary
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Norwegian observational cohort describing genotype distribution and respiratory, cardiac, and mobility outcomes.
Paper Summary
The phenotype of limb-girdle muscular dystrophy type 2I
An early FKRP cohort describing respiratory and cardiac involvement. A July 2003 correction is recorded, but its contents remain unverified here.
Studies
Use the study records for current trial, registry, and cohort context.
Study Record
ATA-100 (Formerly GNT0006) Gene Therapy Trial in Patients With LGMDR9
Phase 1 FKRP gene-transfer trial record for ATA-100, designed to assess safety, pharmacodynamics, and immunogenicity with long-term follow-up.
Study Record
Norwegian LGMDR9 Cohort Study
Norwegian observational study describing FKRP-related disease epidemiology and clinical data from 101 people, published in 2023.
Therapies
Use these support summaries to connect intervention domains back to the wider library.
Glossary