Autologous bone marrow mononuclear cell transplantation in Duchenne muscular dystrophy

Major Points and Findings:

Background:

• DMD is a progressive degeneration of striated muscles, leading to loss of function and premature death.
• Current treatments are palliative and do not alter the disease pathology.

Case Report:

• The 9-year-old boy had a history of muscle weakness, difficulty in climbing stairs, and frequent falls since the age of 4.
• He was wheelchair-bound with a Brooke-Vignos score of 10.
• Diagnosis was confirmed through clinical features, elevated serum creatinine phosphokinase levels, and genetic analysis.

Treatment:

• The boy underwent serial autologous bone marrow mononuclear cell (BMMNC) transplantations followed by multidisciplinary rehabilitation.
• The treatment was combined with vigorous rehabilitation involving physiotherapy, occupational therapy, speech therapy, and psychological counseling.

Results:

• Over a 36-month period, the patient showed gradual progressive improvement in muscle strength, fine motor movements, and ambulation with assistive devices.
• The Brooke-Vignos score improved from 10 to 8, and the functional independence measure (FIM) score increased from 85 to 92.
• Nine months after transplantation, electromyography (EMG) findings showed the development of new normal motor unit potentials in the vastus medialis muscle.
• Magnetic resonance imaging (MRI) showed no increase in fatty infiltration in the musculoskeletal systems.

Conclusions:

The study suggests that cellular therapy could have restorative effects in DMD, as evidenced by improvements in muscle strength, functional scores, and EMG findings.