LGMD2I (also known as LGMD2I/R9 (FKRP-related)) can be complex to diagnose. Accessing the right genetic testing resources to help you identify your sub-type is the first step toward getting the answers you and your family need.2
LGMD2I/R9 primarily impacts the "girdle" muscles around the hips and shoulders.3,4 If you or a loved one experience the following, a genetic test may be recommended:
Difficulty with Mobility
Frequent tripping or trouble climbing stairs and rising from chairs.
Exercise Intolerance
Persistent muscle pain or fatigue following physical activity.
Enlarged Calves
Noticeably firm or large calf muscles despite weakness elsewhere.
Cardiac or Breathing Concerns
Unexplained shortness of breath or heart-related symptoms.
Knowledge is power for you and your family.
Confirm Your Subtype
Validates that your muscle weakness is specifically linked to the FKRP gene, ensuring you are not misdiagnosed with a different form of muscular dystrophy.
Targeted Management
Provides your healthcare provider with the specific genetic data needed to tailor a monitoring plan that addresses both muscle health and potential heart or lung involvement.
Community & Research
Connects you to a global network of patients with the same genetic profile and opens doors to future research opportunities specifically for the R9 community.
External Genetic Testing Programs
Genetic testing is the only way to confirm a diagnosis of LGMD2I/R9.5 Accurate diagnosis may open new avenues for medical management, including participation in clinical research studies and providing vital information to ensure appropriate care. Speak to your healthcare provider for information on genetic testing for LGMD2I/R9. For additional information on genetic testing resources, visit the Lantern Project, Detect Muscular Dystrophy, LGMD2I/R9 Research Fund, or knowlgmd.com.