Objective: To describe the characteristic clinical features and the diagnostic findings in muscle histochemistry of multi-minicore disease in 5 children from two unrelated families in Kuwait.
Clinical presentation: The 5 children who presented with muscle weakness, 2 siblings from family 1 and the remaining 3 from the other (family 2), represent the classical type of multi-minicore disease; however, the two families differ in the course of the disease. Family 1 had the non-progressive form while family 2 had progressive weakness with respiratory complications and scoliosis. The diagnosis was confirmed in the index patients by muscle histochemistry, which demonstrated the typical minicores, which are devoid of oxidative enzyme activity.
Conclusion: Both families represent the classical form, however, clinical variability in the course of the illness was demonstrated in these two families.