A to Z of Medical Conditions

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Multiple system atrophy – what, where and why?

 

Multiple system atrophy

Multiple system atrophy

Multiple system atrophy is a rare nervous system disorder where nerve cells in several parts of the brain deteriorate over time.

From the NHS Choices  website

This causes problems with balance, movement and the autonomic nervous system, which controls a number of the body’s automatic functions, such as breathing and bladder control.

Symptoms of multiple system atrophy

Symptoms of multiple system atrophy usually start when someone is between 50 and 60 years of age, but they can come at any time after 30.

The symptoms are wide-ranging and include muscle control problems, similar to those of Parkinson’s disease.

Many different functions of the body can be affected, including the urinary system, blood pressure control and muscle movement.

Although there are many different possible symptoms of multiple system atrophy, not everyone who’s affected will have all of them.

Bladder problems

Men and women with multiple system atrophy will usually have one or more of the following bladder symptoms:

constantly feeling the need to pee

peeing more frequently

loss of bladder control

being unable to empty the bladder properly

being unable to pee

Erection problems

Men with multiple system atrophy will usually experience erectile dysfunction (the inability to get and maintain an erection), although this is a common problem that many men without the condition develop.

Low blood pressure when standing up

Someone with multiple system atrophy will often feel lightheaded, dizzy and faint after standing up. This is known as postural hypotension and is caused by a drop in blood pressure when they stand upright.

When you stand up after lying down, your blood vessels usually narrow quickly and your heart rate increases slightly to prevent your blood pressure from dropping and decreasing blood flow to your brain.

This function is carried out automatically by the autonomic nervous system; however, this system doesn’t work properly in people with multiple system atrophy, so the control is lost.

Problems with co-ordination, balance and speech

In multiple system atrophy, a part of the brain called the cerebellum is damaged. This can make the person clumsy and unsteady when walking, and can also cause slurred speech.

These problems are collectively known as cerebellar ataxia.

Slowness of movement and feeling stiff

A person with multiple system atrophy has much slower movements than normal (bradykinesia). This can make it difficult to carry out everyday tasks. Movement is hard to initiate, and the person will often have a distinctive slow, shuffling walk with very small steps.

Some people may also have stiff, tense muscles. This can make it even more difficult to move around and cause painful muscle cramps (dystonia).

The above symptoms are typical of Parkinson’s disease but, unfortunately, the medication used to relieve them in people with Parkinson’s disease (levodopa) isn’t very effective for people with multiple system atrophy.

Other signs and symptoms

People with multiple system atrophy may also have:

shoulder pain and neck pain

constipation

cold hands and feet

problems controlling sweating

muscle weakness in the body and limbs – it may be more pronounced in one arm or leg

uncontrollable laughing or crying

sleep problems – insomnia, snoring, restless legs or nightmares

noisy breathing and unintentional sighing

a weak, quiet voice

swallowing problems

blurred vision

depression

dementia (although this is uncommon)

Causes of multiple system atrophy

The causes of multiple system atrophy aren’t well understood.

It doesn’t appear to be inherited – there’s no evidence that an affected person’s children will develop it.

However, it’s possible that both genetic and environmental factors may contribute, so research is currently looking at whether there’s a genetic tendency (predisposition) to develop it.

The brain cells of a person with multiple system atrophy contain a protein called alpha-synuclein. A build-up of abnormal alpha-synuclein is thought to be responsible for damaging areas of the brain that control balance, movement and the body’s autonomic functions.

Diagnosing multiple system atrophy

There’s no specific test to diagnose multiple system atrophy.

A diagnosis can usually be made based on the symptoms, although it can potentially be confused with Parkinson’s disease.

Multiple system atrophy or Parkinson’s disease?

A person is more likely to have multiple system atrophy rather than Parkinson’s disease if:

their symptoms have progressed rapidly – a person with Parkinson’s disease deteriorates more slowly

they’ve experienced falls in the early stages of the condition – this isn’t a typical symptom of Parkinson’s

they don’t respond well to levodopa therapy – levodopa can significantly improve symptoms of Parkinson’s disease

their speech is severely affected – this isn’t a typical symptom of Parkinson’s disease

they gasp and breathe noisily – this isn’t a typical symptom of Parkinson’s disease

Further tests

If multiple system atrophy is suspected, a doctor (usually a neurologist) will test the person’s reflexes and “automatic” bodily functions, such as their bladder function.

A brain scan is often needed – usually an MRI scan or a SPECT scan – to detect any loss of brain cells. Read more about SPECT scans (PDF, 304kb).

More detailed assessments of autonomic function may also be carried out – for example, recording blood pressure changes when lying down and standing.

Treating multiple system atrophy

There’s currently no cure for multiple system atrophy and no way of slowing its progression.

People with the condition typically live for six to nine years after their symptoms start and may deteriorate quickly during this time. Some people may live for more than 10 years after being diagnosed.

Help and support is available, and the symptoms can be managed so that the person is as independent and comfortable as possible.

Read about the:

treatment of low blood pressure

treatment of constipation

treatment of urinary incontinence

treatment of swallowing problems

Physiotherapy and occupational therapy can help people with multiple system atrophy stay mobile and maintain fitness and muscle strength.

Help and support

Help for carers

Practical and financial help is available if you care for someone with multiple system atrophy.

Your local authority can carry out a carers’ assessment to assess your needs and determine the help and support you’re entitled to.

Find out more about carers’ assessments.

Support for people with multiple system atrophy

If you have multiple system atrophy and are finding coping with day-to-day life difficult, your doctor or nurse can refer you to a social worker.

They can carry out an assessment and recommend the help you require. For example, you may need:

care attendants – who can help with everyday tasks such as housework, dressing and washing

meals on wheels – your local council may be able to offer financial help for this; check your eligibility for getting meals at home

benefits – you may be eligible for a number of benefits, such as Attendance Allowance and Personal Independence Payment (PIP)

home adaptations – to make moving around at home easier and ensure your home environment is as comfortable as possible

Find out more about care and support needs assessments.

Further information and support

The Multiple System Atrophy Trust provides help and support to people with multiple system atrophy, as well as their families, carers and the healthcare professionals treating them.

The charity also funds research to discover the cause of multiple system atrophy and to try to find a cure.

The helpline number is 0333 323 4591 (Monday to Friday, 9am to 5pm). You can also email support@msatrust.org.uk.

Posted on A to Z of Medical Conditions

Glomerulonephritis – an introduction

Glomerulonephritis

Glomerulonephritis

Glomerulonephritis is damage to the tiny filters inside your kidneys (the glomeruli). It’s often caused by your immune system attacking healthy body tissue.

Glomerulonephritis doesn’t usually cause any noticeable symptoms. It’s more likely to be diagnosed when blood or urine tests are carried out for another reason.

Although mild cases of glomerulonephritis can be treated effectively, for some people the condition can lead to long-term kidney problems.

Symptoms of glomerulonephritis

In severe cases of glomerulonephritis, you may see blood in your urine. However, this is usually noticed when a urine sample is tested.

Your urine may be frothy if it contains a large amount of protein.

If a lot of protein leaks into your urine, swelling of the legs or other parts of the body (oedema) can also develop. This is known as nephrotic syndrome.

Depending on your type of glomerulonephritis, other parts of your body can be affected and cause symptoms such as:

rashes

joint pain

breathing problems

tiredness

Many people with glomerulonephritis also have high blood pressure.

When to get medical advice

See your GP if you notice blood in your urine. This doesn’t always mean you have glomerulonephritis, but the cause should be investigated.

If your GP suspects glomerulonephritis, they’ll usually arrange:

a blood test – to measure your creatinine level; if your kidneys aren’t working normally, the creatinine level in your blood rises and estimated glomerular filtration rate (eGDR) falls

a urine test  – to check for blood or protein in your urine, either by dipping special strips into a sample of your urine or sending the sample to a laboratory for further testing

If glomerulonephritis is confirmed, further blood tests may be needed to help determine the cause.

If your kidney problem needs to be investigated further, it may be recommended that you have:

an ultrasound scan – this is to check the size of your kidneys, make sure there are no blockages, and look for any other problems

a biopsy – this is to remove a small sample of kidney tissue, carried out using local anaesthetic to numb the area; an ultrasound machine locates your kidneys and a small needle is used to take a sample

Causes of glomerulonephritis

Glomerulonephritis is often caused by a problem with your immune system. It’s not clear exactly why this happens, although sometimes it’s part of a condition such as systemic lupus erythematosus (SLE) or vasculitis.

In some cases, the immune system abnormalities are triggered by an infection, such as:

HIV

hepatitis B and hepatitis C – viral infections of the liver

infection of the heart valves (endocarditis)

In most cases, glomerulonephritis doesn’t run in families.

If you’re diagnosed with an inherited type of glomerulonephritis, your doctor can advise you about the chances of someone else in your family being affected.

They may recommend screening, which can identify people who may be at increased risk of developing the condition.

Treating glomerulonephritis

Treatment for glomerulonephritis depends on the cause and severity of your condition. Mild cases may not need any treatment.

Treatment can be as simple as making changes to your diet, such as eating less salt to reduce the strain on your kidneys.

Medication to lower blood pressure, such as angiotensin-converting enzyme (ACE) inhibitors, is commonly prescribed because they help protect the kidneys.

If the condition is caused by a problem with your immune system, medication called immunosuppressants may be used.

Read about treating glomerulonephritis.

Complications of glomerulonephritis

Although treatment for glomerulonephritis is effective in many cases, further problems can sometimes develop.

These include:

high blood pressure

high cholesterol

blood clots – including deep vein thrombosis (DVT) or a pulmonary embolism

damage to other organs

chronic kidney disease

kidney failure

If you’re diagnosed with glomerulonephritis, your doctor may prescribe medication to help lower your blood pressure, lower your cholesterol or protect against blood clots.

Posted on A to Z of Medical Conditions

Joint hypermobility syndrome – what it is and why you need to know

Joint hypermobility syndrome

Joint hypermobility syndrome



Hypermobility means your joints are more flexible than other people’s (you may think of yourself as being double jointed). When this causes pain, it might be joint hypermobility syndrome.

From the NHS Choices website here.

See a GP if you:

often get pain or stiffness in your joints or muscles

keep getting sprains and strains

keep dislocating your joints (joints “pop out”)

have poor balance or co-ordination

have thin, stretchy skin

have digestive problems like diarrhoea or constipation

These can be symptoms of joint hypermobility syndrome.

What happens at your GP appointment

Your GP will usually test the flexibility of your joints using the Beighton score.

They may also refer you for a blood test or X-ray to help rule out any other conditions like arthritis.

 Testing hypermobility – Beighton score

Treating joint hypermobility syndrome

There’s no cure for joint hypermobility syndrome.

The main treatment is improving muscle strength and fitness so your joints are protected.

Ask your GP to refer you to a physiotherapist or occupational therapist for specialist advice. You can also book them privately.

They can help you:

reduce pain and risk of dislocations

improve muscle strength and fitness

improve posture and balance

Find physiotherapy services

Find occupational therapy services through your local council

It may help to meet other people with joint hypermobility syndrome, or join a support group like the Hypermobility Syndromes Associationor Ehlers-Danlos Support UK.

Treating joint pain

Paracetamol and anti-inflammatory painkillers (like ibuprofen, which can come in tablets, gels and sprays) may help ease any pain. Speak to a pharmacist about the best treatment for you.

Your GP may be able to prescribe stronger painkillers.

If you’re in severe pain, ask your GP to refer you to a pain clinic to help you learn how to cope better with pain.

To help ease joint pain and stiffness, you can:

have warm baths

use hot water bottles

use heat-rub cream

Find a pharmacy

Joint care you can do yourself

To improve joint and muscle strength, and reduce strain:

Do

gentle low-impact exercise like swimming or cycling – not doing any exercise can make your symptoms worse

maintain a healthy weight

buy good, firm shoes

if you have flat feet, use special insoles (support arches) in shoes

Don’t

do high-impact exercise

overexercise

grip things too tightly

overextend your joints just because you can

Children’s joint care

Download joint care techniques for children (PDF, 332kb)

What causes joint hypermobility syndrome

Joint hypermobility syndrome usually runs in families and can’t be prevented.

Usually, the joints are loose and stretchy because the tissues that should make them stronger and support them are weak.

The weakness is because the collagen that strengthens the tissues is different from other people’s.

Posted on A to Z of Medical Conditions

Erythromelalgia – so what is Erythromelalgia?

Erythromelalgia is a rare condition that causes episodes of burning pain and redness in the feet, and sometimes the hands, arms, legs, ears and face.Symptoms of erythromelalgia can begin at any age. Some people may have had it from early childhood, while some are only affected as adults.

Symptoms of erythromelalgia

The three main symptoms of erythromelalgia are heat, pain and redness in the skin.

The feet are most commonly affected, but the hands, arms, legs, ears and face can be too.

Picture of erythromelalgia in the hands

The pain can range from mild, with only a minor tingling feeling like pins and needles, up to a severe burning pain, which can be bad enough to make walking, standing, socialising, exercising and sleeping difficult. It can have a significant impact on work or school life.

People with erythromelalgia typically suffer episodes or “flare-ups” of pain lasting from a few minutes to days. The flare-ups usually start as an itching sensation, which worsens to pain, and tender, mottled red skin that feels warm or hot to the touch.

Other symptoms may include:

  • swelling of the affected body part
  • sweating in the affected area more or less than you usually would
  • purple discolouration when there is no flare-up

Triggers for erythromelalgia

Symptoms are usually triggered by an increase in body temperature.

This can happen:

  • after exercising
  • when wearing warm socks, gloves or tight shoes
  • after entering a warm room
  • when feeling stressed
  • when drinking alcohol or eating spicy food
  • when you’re dehydrated

Treatments for erythromelalgia

Elevation and cooling the skin

Cooling or elevating the affected part of the body may help relieve symptoms.

The skin can be cooled using a fan, cool water, a cool surface or cool gel packs.

However, avoid using ice or anything that’s too cold, and don’t soak hands or feet for a long time in cold water. This can lead to hypothermia or skin damage. And there’s also a risk the change in temperature may trigger a flare-up when the affected area warms up again.

Medications for the skin

Some medications that are applied directly to the skin (topical medication) have been found to help relieve the symptoms of erythromelalgia.

These may be in the form of creams, gels, sprays or patches. You may be prescribed a capsaicin cream or patch to make the heat receptors in your skin less sensitive. Lidocaine (a local anaesthetic) may also be prescribed in the form of a cream, gel or spray.

Your doctor will be able to give you more information about these medications and if they’re right for you.

You can also speak to your pharmacist about lidocaine creams.

Medication taken by mouth

A number of different medications taken by mouth (orally) may help to relieve the symptoms of erythromelalgia.

You may need to try several different medications, under the supervision of your doctor, before you find the one or the combination that works best for you.

Your treatment options will also depend on the type of erythromelalgia you have. Many treatments require referral to a specialist centre so benefits and potential side effects can be closely monitored.

The types of medication your doctor may prescribe include:

  • dietary supplements – such as magnesium, which can help open up your blood vessels
  • aspirin – only used for adults, not for children
  • anti-epilepsy drugs – such as gabapentin or carbamazepine
  • blood pressure drugs – medication to either open up your blood vessels and increase blood flow, or beta-blockers to help reduce blood flow, depending on the cause of your erythromelalgia
  • low doses of antidepressants – such as duloxetine, venlafaxine, amitriptyline or nortriptyline
  • prescription-only painkillers

Medications given via a drip

In some cases, when oral medication has not managed to control the symptoms, medicine may be given directly into the bloodstream via a drip (intravenous infusion). Lidocaine, a local anaesthetic that can help nerve-related pain, can be given this way. But how long it works for varies between people.

Your doctor will explain this procedure to you and how you should prepare for it.

Causes of erythromelalgia

In most cases of erythromelalgia, the cause is unknown.

However, it’s sometimes due to another underlying medical condition or a faulty gene inherited from a parent.

Other medical conditions

Erythromelalgia sometimes results from an underlying condition, such as:

It may also be caused by certain medications. Your doctor will be able to give you more information on this.

Genetic cause

In some people with erythromelalgia, the disease is caused by a faulty gene. Erythromelalgia can run in families when the faulty gene is passed down from a parent to their child (inherited).

The faulty gene causes changes in the way pain signals are delivered to the brain, increasing or strengthening them.

More information and support

Specialist centres in the UK

For children: Great Ormond Street Hospital for Children Pain Control Service

For adults: National Hospital for Neurology and Neurosurgery Pain Management Centre

Organisations that provide support

Information about you

If you or your child has erythromelalgia, your clinical team will pass the information on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.

Page last reviewed: 26/09/2017
Next review due: 26/09/2020

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Bornholm disease – what are the signs and symptoms of Bornholm disease?

Bornholm disease

Bornholm disease

Bornholm disease (also called pleurodynia) is a viral infection that causes pain in the chest or upper tummy and flu-like symptoms.

It usually clears up by itself after a few days, but can sometimes last longer (up to 3 weeks).

Bornholm disease mainly affects children and young adults.

Symptoms of Bornholm disease

The main symptom of Bornholm disease is a severe, stabbing chest pain, which is often worse when you breathe deeply, cough or move.

The pain tends to come and go, with episodes lasting 15 to 30 minutes.

In very severe cases, the pain can make it difficult to breathe and the affected area may be tender.

Other symptoms of Bornholm disease include:

tummy pain

high temperature (fever)

headache

sore throat

cough

aching muscles

These symptoms usually start suddenly and last for a few days. They can sometimes last longer (up to 3 weeks), or they can come and go for a few weeks before eventually clearing up.

When to get medical help

If you have chest pain, it’s important to get it checked out, particularly if it’s severe and comes on suddenly.

Get more advice about chest pain and when to get medical help.

Bornholm disease can be serious for newborn babies, so if you’re in the late stages of pregnancy or have a newborn baby and you’ve come into contact with someone with the condition, ask your midwife or GP for advice.

Treating Bornholm disease

There’s no specific treatment for Bornholm disease. The infection usually clears up on its own within a week.

As the condition is caused by a virus, it can’t be treated with antibiotics. You can use over-the-counter painkillers, such as paracetamol and ibuprofen, to help with any pain.

Newborn babies at risk of getting Bornholm disease may be treated with immunoglobin to make the effects of the virus less severe and help prevent complications. This is only offered on the advice of a specialist.

How the infection is spread

Bornholm disease is very infectious and can be easily spread from one person to another, usually through contact with secretions from the nose or mouth, or the poo of an infected person.

You can get infected by eating or drinking contaminated food or drink, or if you touch contaminated objects such as nappies and then touch your mouth.

This is why it’s very important to wash your hands properly and avoid sharing utensils if you or someone close to you has Bornholm disease.

Less commonly, you can catch Bornholm disease by breathing in infected droplets from coughs or sneezes.

As Bornholm disease is so infectious, there are sometimes outbreaks in schools or nurseries.