J Neuromuscul Dis, 2024

PMID: 39213088

GNE myopathy is a rare, slowly progressive adult-onset distal myopathy with autosomal recessive inheritance, characterized by quadriceps sparing and preferential anterior tibial involvement. Most patients become wheelchair-bound 10-20 years after onset. This study retrospectively analyzed the phenotype-genotype characteristics and disease progression in 157 GNEM patients from a neurology referral hospital in southern India. The mean age at onset and diagnosis was 26.5±6.2 years and 32.8±7.8 years, respectively, with an Male to Female ratio of 25:13. The most common presenting symptom was foot drop (46.5%), with tibialis anterior involvement in 89.2% and early quadriceps weakness in 3.2%. The Indian Founder variant (c.2179 G>A, p.Val727Met) was identified in 82.2% of patients, predominantly in a compound heterozygous state, and was associated with a more severe phenotype. The study highlights genotype-clinical parameter relationships, suggesting that specific GNE genotypes could predict disease severity and progression.

Read More