Hospital Sant Joan de Déu
Sharing to move ahead

ENACH-PKAN

Check-list Rare Commons
Thursday, February 4, 2016

The scientific research team, whose principal researcher is Dr. Belen Perez, has performed an on-site scale of clinical evaluation on a group of 45 patients with pantothenate kinase deficiency or PKAN, the most prevalent within the group of neurodegenerative disorders with accumulation of iron in the brain. This study has made it possible to demonstrate that:

  • Dystonia is a symptom that is widespread in these patients, greatly affecting the oromandibular region which makes it difficult to eat and speak, as well as affecting arms and legs with consequent motor disability. Patients also present an important postural instability, which leads to frequent falls.
  • The earlier the disease manifests itself, the higher the scores on the scale, indicating greater severity. With age, Parkinsonian symptoms (lack of spontaneous movements, slowness of movement, muscular rigidity) progress, while dystonia may be less prominent.

During the "1st Meeting for families and researchers of NBIA" held in our hospital last November, it was possible to evaluate in our hospital some of the patients in the sample part of the study. The remaining patients were assessed by the researchers in their respective referral hospitals, thanks to coordination with their neurologist.

The validation of this tool is essential to assess the effectiveness of future therapeutic options.

 

Last modified: 
02/09/2016