Muscular dystrophy is a general term that describes a group of inherited diseases that cause muscle weakness and muscle loss. A severe type is MDC1A, which is characterized by neonatal onset of muscle weakness, hypotonia, progressive joint contractures, inability to stand and walk, peripheral neuropathy and white matter changes. Common serious complications of MDC1A include respiratory failure and respiratory tract infection is the most common cause of death, which occurs in the first decade of life in 30% of the patients. However, most patients die in their teens. Currently, there is no cure for this devastating disease.The ultimate goal of the research performed in my laboratory is to understand the pathogenesis of laminin a2 chain deficient muscular dystrophy (also known as MDC1A) and to develop a pharmacological treatment for this deteriorating disorder.
- Cell- och molekylärbiologi
- Medicinsk genetik