Find an answer
Find guides, appointment preparation, support pages, papers, studies, and glossary terms. Narrow the results by topic or audience.
Study Record
Phase 3 corticosteroid study record evaluating deflazacort in adults with FKRP-related LGMD2I, ultimately terminated early.
Study Record
Phase 1/2 placebo-controlled gene-therapy study in adults with genetically confirmed FKRP-related LGMD2I/R9.
Glossary
A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.
Preparation tool
A blank worksheet for organizing records, questions, responsibilities, and next steps before and during an appointment.
Study Record
Phase 1 FKRP gene-transfer trial record for ATA-100, designed to assess safety, pharmacodynamics, and immunogenicity with long-term follow-up.
Study Record
Phase 3 randomized ribitol trial in FKRP-related LGMD2I/LGMDR9, with trial details and separately dated sponsor-reported regulatory updates.
Paper Summary
A small FKRP cohort comparing cardiovascular magnetic resonance with electrocardiography and echocardiography.
Therapy Summary
Cardiac management in FKRP starts with surveillance discipline, because meaningful involvement can be present even when limb symptoms dominate the conversation.
Preparation tool
A blank summary for a clinician-reviewed diagnosis, medicines, support needs, contacts, and clinician-written emergency instructions.
Paper Summary
Retrospective analysis relating self-reported middle-school activity to later motor and respiratory measures in 41 people with FKRP variants.
Guide
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.
Study Record
Prospective University of Iowa natural-history study collecting clinical, functional, respiratory, quality-of-life, and selected biospecimen data across dystroglycanopathies.
Paper Summary
Two-sibling case report describing different cardiac courses despite the same homozygous FKRP variant.
Glossary
A group of disorders caused by problems in alpha-dystroglycan glycosylation, including diseases linked to FKRP.
Guide
A neutral route for organizing current contacts, documents, support needs, and clinician-written instructions before an emergency. It does not supply a treatment protocol.
Paper Summary
Norwegian observational cohort describing genotype distribution and respiratory, cardiac, and mobility outcomes.
Paper Summary
A congenital FKRP case report describing severe eye and brain involvement alongside a comparison with published cases.
Site updates
Site changes and a free RSS feed with no email signup.
Guide
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.
Guide
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
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
This page is the research-oriented route into the FKRP site. It is designed to support literature capture, terminology alignment, and use of the paper and study libraries without assuming the user wants to start inside a database index.
Paper Summary
Review article mapping FKRP biology, disease mechanisms, model systems, and the treatment approaches that were emerging by 2021.
Guide
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.
Glossary
The relationship between a genetic variant pattern and the clinical features seen in a person or group.
Study Record
International FKRP patient-registry record designed to characterize the population, support standards of care work, and help identify participants for future studies. ClinicalTrials.gov currently lists the study status as Unknown because the record has not been verified since January 2024.
Paper Summary
Natural-history and survey study describing acute, transient weakness around febrile illness across several dystroglycanopathy genes.
Preparation tool
A neutral worksheet for recording a result, its laboratory reference range, surrounding context, and a question for the clinician.
Glossary
An older diagnostic label commonly used in the literature for FKRP-related limb-girdle muscular dystrophy.
Paper Summary
A genetic screening study identifying FKRP-related LGMD in two North American referral cohorts.
Glossary
The current limb-girdle muscular dystrophy naming convention most often used for later-onset FKRP-related disease.
Study Record
A 24-month observational study evaluating clinical and patient-reported outcome measures across selected muscular dystrophies, including LGMD subtypes.
Therapy Summary
Equipment support is part of care quality in FKRP, not a sign that rehabilitation goals have ended.
Guide
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.
Paper Summary
Retrospective report of self-reported myoglobinuria and muscle pain in a 26-person FKRP-related LGMD2I cohort.
Glossary
Breathing support used during sleep when overnight ventilation is not strong enough without assistance.
Study Record
Norwegian observational study describing FKRP-related disease epidemiology and clinical data from 101 people, published in 2023.
Paper Summary
A six-month oral D-ribose study reported in one adult with FKRP-related LGMD2I.
Guide
Physiotherapy in FKRP-related disease should turn the exercise evidence into age-aware, condition-aware plans that protect function, recovery, breathing, and participation.
Therapy Summary
Physiotherapy in FKRP is most useful when it supports function, pacing, and participation rather than chasing isolated strength gains.
Paper Summary
Longitudinal natural-history analysis relating timed motor tests to loss of functional ambulation in 97 people with LGMDR9.
Paper Summary
Prospective 12-month observational study of muscle-biopsy glycosylated alpha-dystroglycan measurements in genetically confirmed LGMD2I/R9.
Guide
Registries, observational studies, clinical trials, and access programs answer different questions. This guide explains the distinctions, what eligibility and consent mean, and how to verify a current opportunity without assuming enrollment or access.
Practical Support
Practical FKRP support links for families, including registries, emergency-prep resources, school and work support, and reputable organizations.
Therapy Summary
Respiratory support becomes relevant when overnight breathing, cough effectiveness, or ventilatory reserve start to change, even if daytime weakness seems modest.
Paper Summary
Preclinical metabolomics comparison of ribitol and ribose exposure in an FKRP-mutant mouse model.
Preparation tool
A blank coordination sheet for contacts, access needs, observations, recovery notes, and the location of a clinician-approved plan.
Reading tool
A reading path to core guides, preparation tools, support resources, and source-linked research.
Study Record
Phase 2 open-label ribitol study in FKRP-related LGMD2I/LGMDR9 that provides the main early clinical development context for the BBP-418 program.
Paper Summary
An early FKRP cohort describing respiratory and cardiac involvement. A July 2003 correction is recorded, but its contents remain unverified here.
Field Update
Selected FKRP therapeutic programs with dated trial records, sponsor-reported regulatory updates, and historical context.
Guide
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.
No results matched that search.