Spinal Muscular Atrophy Support UK

Spinal Muscular Atrophy (SMA) is an inherited neuromuscular condition that very specifically affects nerve cells in the spinal cord called lower motor neurons. Acting as a message delivery system allowing the conscious contraction of muscles, electrical signals originating in the brain are fired down the spinal cord, along upper motor neurons and on to skeletal muscles via the lower motor neurons.

In SMA, the lower motor neurons degenerate, impairing the link between the brain and muscles. These muscles can no longer be excited, which causes them to atrophy, or wither, due to inactivity. The motor neurons mainly affected in SMA are those which enable walking, crawling, arm and hand movement, head and neck movement, and swallowing. The muscles used in breathing can also be affected leading to breathing complications. The brain and sensory nerves, which allow us to feel sensation such as temperature and touch, remain relatively unaffected in SMA.

SMA is a relatively rare disease that affects approximately 1 in 6,000-10,000 babies born. SMA is a recessive genetic disorder, meaning that two faulty copies of the disease gene have to come together, one from each parent, for the disease to occur. When both parents carry a faulty copy of the disease gene, there is a 1 in 4 chance in each pregnancy of the baby being affected by SMA. About 1 in 40-60 of us carries one of these faulty gene copies that cause the condition.

There are 4 main types of SMA - Types 1, 2 and 3 appear in childhood, while Type 4 affects adults, and is known as Adult Onset SMA. The disease gene behind Types 1-4 is called Survival Motor Neuron 1 (SMN1).

Other rarer forms of SMA include SMA with Respiratory Distress (SMARD), Spinal Bulbar Muscular Atrophy (SBMA), and Distal SMA (DSMA). These diseases are genetically distinct and are caused by faults in different genes.

The inheritance pattern of the adult and rarer forms of SMA can be different from the childhood forms. All types of SMA produce muscle weakness but in varying degrees of severity. Of the conditions caused by faults in the SMN1 gene, Type 1 SMA is the most severe and is usually fatal with two years of birth.

The Jennifer Trust for Spinal Muscular Atrophy is a small experienced and qualified support services team offering free: information, emotional support, practical advice and guidance

This may be by phone or email for adults, young people, parents, relatives and friends affected by Spinal Muscular Atrophy, health and other professionals. We can answer your queries about SMA or signpost you to other organisations or people who can assist.

If you are newly diagnosed, one of our Outreach Workers can visit you. If you have been recently bereaved you may also request a visit.

We provide multi-sensory toy packs for babies newly diagnosed with Type 1 SMA.

We can put you in touch with one of our Peer Support Volunteers who all have personal experience and understanding of SMA. We can let you know about social activities in your area.

We can tell you about campaigns you may wish to support and put you in touch with organisations wanting to consult the SMA community.

We inform, support and empower families and individuals affected by all forms of SMA and raise awareness of the condition. We also fund and support the research community addressing the causes, treatment and management of SMA.