10 Key Facts About Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare genetic disorder where muscles in the body degenerate over time. It is a regressive disease which can, depending on its severity, lead to being unable to walk, talk, swallow and breathe. Here are some key facts about the disease based on information from the SMA Trust.
SMA is caused by a fault in the Survival Motor Neuron 1 (SMN1) gene.
Approximately one in 6,000 to 10,000 babies will be born with the condition.
There are four types of SMA, with type 1 being the most severe form and type 4 the mildest form.
Types 1 to 3 appear in childhood and type 4 SMA appears in adulthood.
Type 1 SMA is often diagnosed within a few months of the infant’s life.
Type 2 SMA is usually diagnosed after the age of six months when the infant fails to meet certain development milestones. Advances in medicine and technology mean that they can still live productive lives.
Type 3 SMA can occur later in a child’s life and their motor skills will start to reverse. Although many will need a wheelchair, the life expectancy is normal and they can lead full lives.
Type 4 SMA, or adult-onset SMA, is a much milder form of the disease and only slight disability will be experienced.
SMA is an autosomal recessive neurodegenerative disease, which means both parents need to have the faulty gene and the child will receive one copy of the faulty gene from each parent.
It’s estimated that between one in 40 to 60 people are SMA carriers.
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