Patients & Family - Neuromuscular 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 disorders such as Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM1), Huntington’s Disease (HD) and Spinal Muscular Atrophy (SMA).
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy first affects boys under 5 years with parents noticing their child tiring easily and finding 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 poor functioning of the heart. Life expectancy varies from mid teens to early 30s with some patients living beyond 40.
Myotonic Dystrophy
The most common muscular dystrophy in adults, Myotonic Dystrophy also occurs in childhood and in the newborn. 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.
Huntington's Disease
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.
Spinal Muscular Atrophy
The symptoms of Spinal Muscular Atrophy vary by severity of the disease and when it first occurs. The chief features are muscle weakness and loss of muscle bulk and when it affects the newborn, parents will notice floppiness of their child and difficulty with breathing and feeding.