Table 1 Demographic characteristics of the patient cohort

Age range (Mean)

1.5–18 Yrs (8 Yrs)

12–37 Yrs (21 Yrs)

8–42 Yrs (16 Yrs)

Age of onset range (Mean) (In our cohort, at the onset patients have received their first clinical evaluation)

1–8 Yrs (4 Yrs)

11–15 Yrs (13 Yrs)

7–18 Yrs (12 Yrs)

Gender

Male-138: Female-0

Male-11: Female-0

Male-84: Female-3

Frequent First neurological event at onset

Difficulty in climbing stairs- 49/138 (36%) and Frequent falling- 39/138 (28%)

Calf pain- 3/11 (27%) Difficulty in climbing stairs- 3/11 (27%) and Frequent falling- 3/11 (27%)

Difficulty in climbing stairs- 40/87 (46%)

Frequent falling- 22/87 (25%)

Presence of development delay

(Most patients were present with a combination of developmental delays)

76/138 (55%)

Of which;

Motor delay- 67/76 (88%)

Language delay- 57/76 (75%)

Vision & fine motor delay- 30/76 (39%)

No

4/87 (5%) Of which; Motor delay- 3/4 (75%)

Language delay- 2/4 (50%)

NSAA mean

14/34

21/34

23/34

CPK Range

1670–45000 U/L

916–11,340 U/L

840–9750 U/L

Mean CPK

15,143 U/L*

4000 U/L*

4330