Symptoms of spinal muscular atrophy

There are several different types of spinal muscular atrophy (SMA) – the disease is classified according to the age at which symptoms develop and how severe they are.

In general, SMA affects a person’s physical abilities, such as moving, walking and breathing, but does not affect their mental development.

It causes the muscles throughout the body to become weak and shrink (atrophy), with the muscles closest to the centre of the body, such as the shoulders, hips and back (proximal muscles), usually affected first.

The most common forms of SMA are usually divided into four types, described below.

Type I

Type I SMA (previously known as Werdnig-Hoffmann disease) is believed to be the most common form of SMA. It causes severe muscle weakness, which can result in problems moving, eating, breathing and swallowing.

These symptoms are usually apparent at birth or during the first few months of life.

The muscles of babies with Type I SMA are thin and weak, which makes their limbs limp and floppy. They are usually unable to raise their head or sit without support.

Breathing problems can be caused by weakness in the baby’s chest muscles, and difficulty swallowing can be made worse by weakness of the muscles in the tongue and throat.

Unfortunately, due to the high risk of serious respiratory problems, most children with Type I SMA die before they reach one year old.

Type II

Type II SMA usually develops when an infant is 6–18 months old. The symptoms are less severe than Type I, but usually get worse over time.

Infants with Type II SMA are usually able to sit, but not stand or walk unaided. They may also have the following symptoms:

In some cases, deformities of the hands, feet, chest, and joints develop as the muscles shrink.

As they grow, many children with Type II SMA develop scoliosis. This is an abnormal curvature of the spine which occurs when the muscles supporting the bones of the spine become weaker.

Like Type I SMA, there is a high risk of fatal respiratory problems, although most people with Type II SMA live into their teenage years or early adulthood.

Type III

Type III SMA (previously known as Kugelberg-Welander disease) is the mildest form of childhood SMA. It’s usually diagnosed around the age of three, but it can be as late as the teenage years.

Most children with Type III SMA are able to stand unaided and walk, although many find walking or getting up from a sitting position difficult. They may also have:

• balance problems
• an abnormal way of walking
• difficulty running or climbing steps
• a slight tremor (shaking) of their fingers

Over time, the muscles of children with Type III SMA will become weaker, resulting in some children losing the ability to walk when they get older.

Breathing and swallowing difficulties are very rare and the condition doesn’t usually affect life expectancy.

Type IV (Adult-onset)

Type IV SMA is a less common form that begins in adulthood. The symptoms are usually mild to moderate and may include:

• muscle weakness in the hands and feet
• difficulty walking 
• muscle tremor (shaking) and twitching  

Type IV SMA doesn’t affect life expectancy.

Rarer types

As well the four more common forms of SMA, there are a number of rare types, which have slightly different characteristics and causes.

Spinal muscular atrophy with respiratory distress

Spinal muscular atrophy with respiratory distress (SMARD) is a very rare form of SMA that’s usually diagnosed before a baby is six months old.

Infants with SMARD have very weak breathing muscles, resulting in severe breathing difficulties that are often fatal. Like Type I SMA, most children with SMARD die before their first birthday.

Kennedy’s syndrome

Kennedy’s syndrome, or spinobulbar muscular atrophy (SBMA), is a rare type of adult SMA.

SBMA only affects men. It usually develops very gradually between the ages of 20 and 40, although rarely, it can affect teenage boys or sometimes only become obvious after 40.

The initial symptoms of Kennedy’s syndrome may include tremor (shaking) of the hands, muscle cramps on exertion, muscle twitches and weakness of the muscles of the limbs.

As the condition progresses, it may cause other symptoms, including:

• weakness of the facial and tongue muscles, which may cause difficulty swallowing (dysphagia) and slurred speech
• recurring pneumonia (infection of lung tissue)

Some people with Kennedy’s syndrome also develop enlarged male breasts (gynecomastia), diabetes and a low sperm count or infertility.

Kennedy’s syndrome doesn’t usually affect life expectancy.