First clinical and genetic description of a large cohort of patients with sarcoglycanopathy in India

A retrospective study included 68 Indian patients (37 males and 31 females) with SGCA-related LGMD R3 (22), SGCB-related LGMD R4 (34), SGCG-related LGMD R5 (7) or SGCD-related LGMD R6 (5).

The patients have the following characteristics:

  • Onset of the disease is at an average age of seven years.
  • In addition to weakness of the thighs, 94% of patients have difficulty getting up from the floor (94%) and running (85%), fall regularly (62%) and walk on tiptoes (21%); 48% have lost their ability to walk by the average age of 15 years.
  • 50% of the patients have, after an age of 9 years on average, weakness of the arm and shoulder muscles.
  • A detached scapula is observed in 60% of people.
  • 35% have facial muscle weakness, 74% have retractions (ankles, knees) and 91% have hypertrophied calves.
  • Rapid fatigability (7%), scoliosis (10%) and macroglossia (13%) were less frequent. Only three patients had cardiac and/or respiratory problems.
  • In this group, LGMD R4 is the most common and LGMD R6 the least common.
  • 32 pathogenic genetic variants, including 7 new ones, have been reported.
  • Two mutations were identified in one patient, in the SGCD and SH3TC2 genes, showing for the first time the coexistence of LGMD R5 and CMT 4C in one individual.


Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C. Bardhan, M., Anjanappa, R. M., Polavarapu, K. et al. Neurogenetics. 2022.