About Mia

Mamma till tre barn och tvillingarna, en av tvillingarna min äldsta son har SMA Type I-II. Jag arbetar som undersköterska inom akutsjukvården

Petition – Please help the Canadian SMA Community!

Sign and share this petition for access to the only treatment for SMA. SMA Canada is fighting for access to Spinraza. We share this petition and hope for a collective help, only together are the weakest strong, Funding of Spinraza for all Canadian patients affected by Spinal Muscular Atrophy (SMA)… Att fortsätt läsa

CHP1 mutation causes cerebellar ataxia

In a successful cooperation between the working groups of Prof. Brunhilde Wirth at the Institute of Human Genetics (University Hospital Cologne) and the Center for Molecular Medicine Cologne (ZMMK) as well as Prof. Giovanni Stevanin at the Institute of Neurogenetics of the French Institute of Health and Medical Research (INSERM… Att fortsätt läsa

Effects of Arm Cycling Exercise in SMA Type II Patients

In this study, we presented a constructed arm cycling exercise protocol and evaluated the benefits on SMA patients. Five SMA type II patients performed 12 weeks of supervised arm cycling exercise. The physical functions were evaluated together with the SMN2 copy numbers, SMN protein levels, insulin-like growth factor 1(IGF1) and… Att fortsätt läsa