Diagnosis & Testing
The signs of LGMD2I/R9 start before motion stops
The presentation of limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9) is diverse, with symptom onset ranging from childhood to early adulthood.1 That variability is part of its challenge, with diagnostic delays of LGMD2I/R9 taking as long as 10 or more years.2 LGMD2I/R9 typically presents with:
CK=creatine kinase.
Genetic testing is essential. So is knowing when to test.
For LGMD2I/R9, FKRP mutations should be confirmed through genetic testing, which offers an accurate, rapid, and noninvasive diagnosis of LGMD2I/R9.5,6
- Start with suspicion: When symptoms and family history raise flags4
- Test CK levels: Look for unexplained elevations4
- Move to genetic testing and refer to a specialist: Use of panels that include FKRP is recommended. Consider referring your patient to a neuromuscular specialist for further testing amid inconclusive results4
Today, a range of testing modalities is available that can
make testing fast, accessible, and affordable.
Next-Generation Sequencing (NGS)7
Broad neuromuscular panels that include FKRP are preferred for first-line testing.
Targeted FKRP Testing4
For patients with a strong clinical phenotype indicative of LGMD2I/R9 or relevant ancestry (eg, Northern European descent with known founder mutations).
Whole Exome Sequencing (WES)4
WES can be used in unresolved cases or when initial testing yields uncertain findings.
Important Coding Information
A specific ICD-10 code for LGMD2I/R9 is coming—keep your patients in mind for proper coding this October.
Genetic testing for LGMD2I/R9 is now more accessible
Genetic testing has become more accessible, and the technology has greatly accelerated the time to diagnosis.6
There are currently several programs that offer sponsored, no-charge genetic testing to individuals:
Detect MD
Invitae offers sponsored, no-charge testing programs to provide access to patients who meet certain eligibility criteria for LGMD. This panel analyzes genes based on currently available evidence to provide a comprehensive test for the genetic causes of LGMD.
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The Lantern Project
The Lantern Project offers a sponsored testing program for LGMD for patients with symptoms suggestive of LGMD, or clinical diagnosis suspected to be LGMD and requiring genetic confirmation
View This Test