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.
