The severity of sarcoglycanopathies is predicted by age at symptom onset

Takeaway

  • Sarcoglycanopathies that began earlier in life were more likely to lead to a worse phenotype and an earlier loss of ambulation (LoA).

Why this matters

  • Mutations in different sarcoglycan proteins (α, β and γ) lead to recessive limb-girdle muscular dystrophies with a wide range of phenotypes, in which management and treatment strategies may be tailored to.