Press Contact Details

The Jennifer Trust provides information to journalists on a wide range of issues associated with Spinal Muscular Atrophy and can put you in touch with affected families and individuals as necessary.

Contact:

Richard Green

Tel:	01789 267 520
E-mail:
Mobile:	07960 941 070

Key Facts About SMA

Spinal muscular atrophy (SMA) is a condition that affects certain nerves in the spinal cord, breaking the link between the brain and the muscles. As a result, the muscles cannot be used and become wasted or atrophied.

Type I children never sit and rarely survive beyond two years of age. Type I SMA is the biggest genetic killer of infants in the UK.

Type II children can sit, but cannot walk. Many Type II children live into adulthood.

Type III SMA causes problems with walking or getting up from sitting but is not a life limiting condition.

About 1 in 40 people in the UK are carriers of the defective SMA gene (over 1 million people)

Both parents need to be carriers before a baby is at risk. In these circumstances, there is a one in four chance of the baby being affected.

Around one in 6,500 babies are affected each year. That is about 100 new cases each year.

In More Detail

What is Spinal Muscular Atrophy?

Spinal muscular atrophy (SMA) is a condition that affects the nerves in an area of the spinal cord called the anterior horn. These nerve cells become damaged, breaking the link between the brain and the muscles. As a result, the muscles can't be used and become wasted or atrophied.

What are the symptoms?

SMA affects the voluntary muscles (especially those closest to the trunk of the body) used for activities such as crawling, walking, head and neck control and swallowing.

There are several different types of spinal muscular atrophy: type I (severe, also known as Werdnig-Hoffmann syndrome), type II (intermediate) and type III (mild, also known as Kugelberg-Welander disease) affect children, while there are a variety of types of adult-onset SMA that develop later in life.

Type I may begin before birth (lack of foetal movement in late pregnancy) or shortly afterwards. An affected baby rarely develops normal movement and is never able to sit unaided. Swallowing, feeding and breathing may be difficult, and the child rarely survives to the age of two.

Type II usually appears within the first few months of life. Type II children can sit unaided but are not able to walk. Many affected children reach adulthood, although their prognosis is closely linked to the extent that their breathing muscles are affected.

Type III may be diagnosed as late as adolescence. Those affected may have problems walking or getting up from sitting. Type III SMA is not a life limiting condition.

Unlike types I, II and III, which aren't usually progressive, adult-onset SMA tends to progress very slowly, although it's not usually life-threatening. Symptoms are variable and depend on the muscles affected. Fatigue may be a problem, but the muscles used for swallowing and respiratory function are rarely affected.

Who is affected?

Types I, II and III SMA are autosomal recessive conditions and affect boys and girls equally.

Genes come in pairs. Recessive inheritance means BOTH genes in a pair must be defective to cause disease. If a person only has one defective gene in the pair, they are considered a carrier. However, they can pass the abnormal gene to their children.

When both parents are carriers, there is a one in four chance of the child being affected.

It's estimated that about 1 in 40 people in the UK are carriers of the defective SMA gene (over 1 million people) and around one in 6,500 babies are affected each year.

Adult-onset SMA may be autosomal recessive, autosomal dominant or X-linked recessive (a form of SMA known as Bulbo-SMA or Kennedy's syndrome). In a few cases, adult-onset SMA results from genetic mutations acquired during life rather than inherited.

What is the treatment?

Currently, there is no cure or treatment to repair the nerve damage, but support care including physio and respiratory support is very important. Within affected families, once the abnormal gene has been identified, carriers can be detected by a blood test, and antenatal screening using CVS (chorionic villus sampling) is available.

About the Jennifer Trust

The Jennifer Trust for Spinal Muscular Atrophy is the only national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments, and eventually a cure for the disease.

The condition affects people of all ages, race or background. The Jennifer Trust aims to provide support to any child, adult or family affected by SMA. We presently offer support to over 3,670 adults and 1,830 children whose lives have been affected by the condition.

October 2007