Late-onset Pompe disease: Experience from Western India over 25 years

Abstract

We report clinical and genetic profile of 10 patients with Late-onset Pompe disease (LOPD) from Western India, diagnosed over 26 years from a cohort of 2374 myopathy cases. Diagnostic modalities evolved from muscle biopsy to enzyme assays and genetic sequencing. The predominant phenotype was limb-girdle weakness; rare features included facial weakness and scapular winging. The c.1841C>T (p.T614M) variant was most common, while the globally prevalent c.-32-13T>G variant was reported for the first time in India. A persistent diagnostic delay averaging six years highlights the need for increased clinician awareness to facilitate timely identification and treatment of this treatable disease.