The UK SMA Patient registry is a database of genetic and clinical information (or data) about people affected by spinal muscular atrophy (SMA). Spinal Muscular Atrophy (SMA) is a rare inherited neuromuscular condition, which may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. SMA is caused by a fault in the gene called Survival Motor Neuron 1 (SMN1). This gene carries the information required for the production of an important protein. When there is not enough of this protein, the nerve cells that help to control the muscles for moving and breathing become damaged.
Adults and children with SMA and a confirmed mutation in the SMN1 gene who live in the UK or Ireland can sing up to the UK SMA Patient registry. People affected by the SMA can register online and create an account so that they can view and update their information at any time. If a person is under 16, a parent or guardian must create an account on their behalf.
Register online at www.treat-nmd.org.uk/registry
T: +44 (0) 191 241 8605