Limb-girdle muscular dystrophy
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A young adult presents with progressive proximal weakness affecting hips and shoulders. CK is elevated. Genetic testing reveals a variant in a sarcoglycan gene.
Heterogeneous (>30 subtypes)
- AD (LGMD D): rare
- AR (LGMD R): more common - sarcoglycans, calpain-3, dysferlin, others
- Proximal weakness (pelvic and shoulder girdle)
- Variable onset and severity by subtype
- Elevated CK
- Some subtypes: cardiomyopathy, respiratory involvement
- Elevated serum CK with proximal weakness prompts evaluation; EMG and muscle MRI support a myopathic pattern
- Multigene LGMD panel (or broad neuromuscular panel) is the preferred confirmatory test given marked locus heterogeneity
- Muscle biopsy with immunohistochemistry (sarcoglycans, dysferlin, dystrophin) when molecular testing is inconclusive
- Physical and occupational therapy to preserve mobility; orthopedic management of contractures and scoliosis
- Cardiac surveillance (ECG, echocardiogram) for subtypes with cardiomyopathy or conduction disease
- Pulmonary function monitoring with respiratory support as needed in subtypes with diaphragmatic involvement
- Multidisciplinary neuromuscular care; genetic counseling reflecting subtype-specific inheritance (AR vs AD)
"LGMD = young adult with progressive weakness in shoulders and hips": Think of LGMD when you see proximal weakness affecting both the pelvic and shoulder girdle (vs Becker, which predominantly affects hips). LGMD is an example of locus heterogeneity (>30 genes cause the same clinical phenotype).