Progressive supranuclear palsy (PSP): symptoms, causes and treatment

The NHS lists early symptoms as sudden loss of balance when walking that usually results in repeated falls, often backwards; extreme tiredness; slow, quiet or slurred speech; changes in personality and behaviour; difficulties with planning and organisation; a dislike of bright lights; difficulty controlling the eye muscles, particularly looking up and down; and blurred or double vision. Some people have early symptoms very similar to Parkinson's disease, such as muscle stiffness and slow movement.

In the middle stages, worsening balance and mobility problems may mean walking becomes impossible and a wheelchair is needed, controlling the eye muscles becomes more difficult, and new symptoms can develop such as swallowing problems, eyelid twitching or drooping, disturbed sleep, slowness of thought, memory problems, muscle stiffness in the neck, and pain. In advanced stages speech becomes more slow and slurred, thinking and concentration difficulties increase, and severe swallowing problems may need a feeding tube. Bowel and bladder problems, including constipation, difficulty passing urine and incontinence, are common.

The NHS stresses that most people will not have all the symptoms, and the speed of progression varies widely from person to person.

• Sudden falls, often backwards.

• Difficulty looking up or down; blurred or double vision.

• Slow, quiet or slurred speech.

• Muscle stiffness and slowness.

• Changes in behaviour, personality or thinking.

• Swallowing difficulty, which increases over time.

Progressive supranuclear palsy is caused by increasing numbers of brain cells becoming damaged over time. The NHS explains that the damage results from a build-up of a protein called tau. Tau occurs naturally in the brain and is usually broken down before it reaches high levels, but in PSP it forms clumps in brain cells. The amount and location of these clumps vary among people, which is why the condition can have a wide range of symptoms.

The NHS says the condition has been linked to changes in certain genes, but that the genetic faults are not inherited and the risk to other family members is very low.

The NHS says there is no single test for PSP. The diagnosis is based on the pattern of symptoms, and doctors will try to rule out other conditions that can cause similar symptoms, such as Parkinson's disease. Early on, the symptoms can be similar to other conditions, which makes early diagnosis difficult, and the large number of possible symptoms can mean it takes a while to get a definitive diagnosis.

You may need a brain scan to look for other possible causes, and tests of memory, concentration and ability to understand language. The NHS says the diagnosis must be made or confirmed by a consultant with expertise in PSP, usually a neurologist.

The NHS says there is currently no cure and no treatment that can stop PSP from progressing, but research continues. Treatment focuses on relieving symptoms and giving the best possible quality of life, with a multidisciplinary team that may include a neurologist, physiotherapist, speech and language therapist, occupational therapist, social worker, ophthalmologist or orthoptist and a specialist neurology nurse.

Medicines used for Parkinson's disease may improve stiffness and slowness for some people in the early stages, although the effect is often limited and lasts only up to a few years. Botox injections may relieve muscle spasms and eyelid problems, and antidepressants can help with depression and may also help pain, bladder and bowel problems and disturbed sleep. Physiotherapy advises on exercise, posture and equipment such as walking frames, speech and language therapy helps with communication and swallowing, and an occupational therapist advises on safety and preventing falls at home.

As swallowing becomes more severe, a dietitian can advise on changing the consistency of food, and feeding tubes such as a PEG tube may be recommended to reduce the risk of malnutrition and dehydration. The NHS advises discussing the pros and cons of feeding tubes with family and the care team, preferably when swallowing problems are at an early stage.

Two of the most distinctive areas of PSP need their own attention. For the eyes, the NHS says that if you are having problems controlling your eyelids, injections of botulinum toxin (such as Botox) can be used to help relax the muscles of the eyelids, with effects that usually last for up to 3 months. If you have dry eyes because of reduced blinking, eyedrops and artificial tears can lubricate them. Glasses with specially designed lenses can help some people who have difficulty looking down, and dark wraparound glasses can help those who are sensitive to bright light.

For swallowing, the NHS says a speech and language therapist can teach swallowing techniques and may suggest altering the consistency of food. A physiotherapist can teach breathing exercises to use when you eat to reduce the risk of aspiration pneumonia, a chest infection caused by food particles falling into the lungs. In advanced PSP, the NHS says loss of control of the throat muscles can lead to severe swallowing problems, and that a feeding tube may be required to prevent choking and chest infections caused by fluid or small food particles passing into the lungs.

The main type of feeding tube is a percutaneous endoscopic gastrostomy (PEG) tube, placed into the stomach through the tummy during an operation. The NHS advises discussing the pros and cons with your family and care team, preferably when swallowing problems are at an early stage.

The NHS says good care and assistance can help someone with PSP to be more independent and enjoy a better quality of life, but that there will come a point when a person is at risk of serious complications. It suggests talking to the care team about what you would like to happen when the condition reaches this stage, which means thinking about future care preferences while you are well enough to express them.

The NHS notes that clinical teams pass information about people with PSP to the National Congenital Anomaly and Rare Disease Registration Service, which helps scientists look for better ways to prevent and treat the condition, and that you can opt out at any time.

The NHS says it is important to tell your doctor about the symptoms you are experiencing so they can consider which treatments are best for you, and that you can ask your specialist neurology nurse, who may act as your point of contact with the rest of the team. If new symptoms appear, such as more frequent falls, choking when eating or drinking, or signs of a chest infection, contact your GP, specialist nurse or NHS 111 promptly.

In a medical emergency, such as a serious injury from a fall, severe difficulty breathing or choking that does not clear, call 999. The NHS PSP pages do not set out separate emergency thresholds, so follow your own care plan and any advance care plan you have agreed.

The NHS describes practical help from the team for day-to-day life with PSP: advice from a physiotherapist on exercise and equipment such as walking frames, from an occupational therapist on home safety and preventing falls, from a speech and language therapist on communication aids and swallowing, and from a social worker on support available from social services.

On the NHS, diagnosis usually follows a GP referral to a neurologist, and ongoing care is provided by a multidisciplinary team that may include a neurologist, physiotherapist, speech and language therapist, occupational therapist, social worker, ophthalmologist or orthoptist and a specialist neurology nurse. The NHS stresses that the diagnosis must be made or confirmed by a consultant with expertise in PSP.

Private neurology opinions are available, and some people use them for a second opinion, but therapy, social care and palliative services are usually coordinated through the NHS team. The PSP Association is a UK charity dedicated to people affected by PSP and corticobasal degeneration, and the NHS lists it as a source of help and advice for carers. Whichever route is used, ask who coordinates the team.