Table 1 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