Good response to the use of Ataluren in Duchenne muscular dystrophy: case report

*Correspondence: [e-mail].

Abstract

Case Presentation: Adolescent, male, 12 years old, diagnosed with Duchenne Muscular Dystrophy (DMD), symptoms noticed by the family at the age of four (frequent falls, myopathic rising, pseudo-hypertrophy of calves), diagnosed and started on Ataluren (40mg/kg/day) and other supportive therapies at the age of seven through a clinical trial. The patient exhibited significant delay in disease progression compared to patients who did not receive the medication. Currently, at 12 years old, the patient still maintains ambulation, with no signs of imminent loss of walking ability, with muscle strength equal to or greater than 4/5 in most muscle groups, walking 10m in 14 seconds and running 10m in 8 seconds.

Discussion: DMD is a severe neuromuscular disease, inherited in an X-linked recessive manner, affecting 1 in every 3,500 to 5,000 live-born boys. It is characterized by progressive muscle weakness and loss of movement due to the absence of the dystrophin protein and permanent degeneration of muscle fibers. Patients typically experience proximal muscle weakness between the ages of 2 and 5, and there may be delays in neuropsychomotor development, intellectual disability, or associated autism spectrum disorders. In cases of suspected diagnosis, the creatine phosphokinase (CPK) enzyme should be measured, and if it is > 2,000 U/L, a confirmatory genetic test is recommended. Treatment involves the use of corticosteroids, motor and respiratory physiotherapy, medications for cardiac protection, and, in cases where the identified variant is a nonsense mutation causing a stop codon, Ataluren is beneficial. Attention should also be given to the patient's scoliosis, initiation of wheelchair use when walking is lost, and other necessary prophylactic and/or palliative measures.

Final Comments: Ataluren is used in the treatment of DMD, administered orally, and it acts on dystrophin protein transcription, reversing the nonsense mutation in the DNA. Ataluren enables ribosomal readthrough of the messenger RNA containing this premature termination codon, resulting in the production of a full-length protein. Research has already confirmed the effectiveness of Ataluren as a disease-modifying medication, delaying disease progression, postponing the loss of walking ability, respiratory weakness, and loss of upper limb movements. In this case, it is observed that the patient maintains preserved walking ability at the age of 12, which is uncommon in patients of this age without specific treatment.

Publication History

Article published online:
12 May 2025