GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.

ABSTRACT:

Introduction

GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10-20 years after onset. This study analyzes the phenotype-genotype characteristics and disease progression in a large cohort of GNEM patients from India.

Materials and methods

Retrospective observational study on GNEM from a quaternary neurology referral hospital in southern India. Data was collected from clinical phenotyping, serum creatine kinase levels, muscle biopsy histopathology, genetic analysis and functional assessment scales - IBMFRS and MDFRS.

Results

157 patients were included with mean age

SUBMITTER: Baskar D 

PROVIDER: S-EPMC11380251 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature