Limb-Girdle Muscular Dystrophy, Type 2H (TRIM32)
Limb-girdle muscular dystrophy, type 2H is caused by pathogenic variants in the gene TRIM32. Disease onset is typically in childhood or early adulthood. Individuals typically experience proximal muscle weakness and wasting of the pelvic and shoulder girdles, calf pseudohypertrophy, joint contractures, scapular winging, muscle cramping, and facial and respiratory muscle involvement. Affected individuals generally have a slow, progressive course. Rarely pathogenic variants in TRIM32 may also cause Bardet-Biedl syndrome 11, an autosomal recessive disorder. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.