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Table 1 GNE myopathy at a glance

From: GNE myopathy: from clinics and genetics to pathology and research strategies

GNE myopathy at a glance
Onset 20s
Prevalence 1/ 1.000.000
Genetic Autosomal-recessive
First symptom Foot drop
Additional symptoms Hand weakness
Unusual mimicking of other myopathic diseases Scapuloperoneal syndrome, LGMD, CMT, MTM, LGMD2B
Quadriceps sparing Good strength in 95% of the patients
Progression Slowly from distal to proximal
Beevor’s sign Positive in 90% of an Indian cohort
Cardiac involvement Risk of cardiomyopathy is not increased
Respiratory involvement Mild to moderate decrease in FVC in non-ambulatory patients