Patients & Family - Neuromuscular and Neurodegenerative Disorders
Prosensa’s platform technology allows the development of RNA-modulating therapeutics that either interfere with splicing (exon skipping, exon inclusion, or splice mutation correction), remove mutant RNA, or block RNA expression, for different indications. Prosensa’s main focus is on neuromuscular and neurodegenerative disorders such as Duchenne Muscular Dystrophy, Myotonic Dystrophy and Huntington’s disease.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a rare, severe muscle wasting disease that occurs in up to 1 in 3,500 young boys. The first symptoms typically appear when boys are between the ages of 3 to 5 years, when their parents notice they get tired easily and find it difficult to climb stairs. This may be accompanied by swelling of the calf muscles. Over the next few years, weakness of the muscles gets progressively worse with many boys needing a wheelchair by around 12 years of age. Deformities of the muscles can occur together with abnormal curvature of the spine (scoliosis).
Eventually, boys experience breathing difficulties and heart failure. Life expectancy varies from mid-teens to early 30s with some patients living beyond 40.
The most common muscular dystrophy in adults, Myotonic Dystrophy (DM1) also occurs in childhood and in the new born. Muscle weakness is the most frequent symptom, but other parts of the body may be involved including the heart, the nervous and the digestive systems.
Symptoms start typically in middle age, with unsteadiness together with a decline in reasoning. Difficulties with coordination, abnormal movements (chorea) and signs of dementia then appear. Complications such as pneumonia and heart disease, together with falls, reduce life expectancy.