A to Z of Medical Conditions

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Noonan syndrome – what are the characteristics of Noonan syndrome

Noonan syndrome

Noonan syndrome

Noonan syndrome can affect a person in many different ways. Not everyone with the disorder will share the same characteristics.

The three most common characteristics of Noonan syndrome are:

unusual facial features

short stature (restricted growth)

heart defects present at birth (congenital heart disease)

These are discussed in more detail below.

Unusual features

People with Noonan syndrome may have a characteristic facial appearance, although this isn’t always the case.

The following features may become apparent soon after birth:

a broad forehead

drooping eyelids (ptosis)

a wider-than-usual distance between the eyes

a short, broad nose

low-set ears that are rotated towards the back of the head

a small jaw

a short neck with excess skin folds

a lower-than-usual hairline at the back of the head and neck

Children with Noonan syndrome also have abnormalities that affect the bones of the chest. For example, their chest may stick out or sink in, or they may have an usually wide chest with a large distance between the nipples.

These features may be more obvious in early childhood, but tend to become much less noticeable in adulthood.

Short stature

Children with Noonan syndrome are usually a normal length at birth. However, at around two years old you may notice that they don’t grow as quickly as other children of the same age.

Puberty (when a child begins to mature sexually and physically) typically occurs a few years later than normal and the expected growth spurt that normally happens during puberty is either reduced or doesn’t happen at all.

Medication known as human growth hormone can sometimes help children reach a more normal height. Left untreated, the average adult height for men with Noonan syndrome is 162.5cm (5ft 3in) and for women is 153cm (5ft).

Heart defects

Most children with Noonan syndrome will have some form of congenital heart disease. This is usually one of the following:

pulmonary stenosis – where the pulmonary valve (the valve that helps control the flow of blood from the heart to the lungs) is unusually narrow, which means the heart has to work much harder to pump blood into the lungs

hypertrophic cardiomyopathy – where the muscles of the heart are much larger than they should be, which can place a strain on the heart

septal defects – a hole between two of the chambers of the heart (a “hole in the heart”), which can cause the heart to enlarge and/or lead to high pressure in the lungs

Read more about the different types of congenital heart disease.

Other characteristics

Other less common characteristics of Noonan syndrome can include:

learning disability – children with Noonan syndrome tend to have a slightly lower-than-average IQ and a small number have learning disabilities, though these are often mild

feeding problems – babies with Noonan syndrome may have problems sucking and chewing, and may vomit soon after eating

behavioural problems – some children with Noonan syndrome may be fussy eaters, behave immaturely compared to children of a similar age, have problems with attention and have difficulty recognising or describing their or other people’s emotions

increased bruising or bleeding – sometimes the blood doesn’t clot properly, which can make children with Noonan syndrome more vulnerable to bruising and heavy bleeding from cuts or medical procedures

eye conditions – including a squint (where the eyes point in different directions), a lazy eye (where one eye is less able to focus) and/or astigmatism (slightly blurred vision caused by the front of the eye being an irregular shape)

hypotonia – decreased muscle tone, which can mean it takes your child a bit longer to reach early developmental milestones

undescended testicles – in boys with Noonan syndrome, one or both testicles may fail to drop into the scrotum (sack of skin that holds the testicles)

infertility – especially if undescended testicles aren’t corrected at an early age, there’s a risk of boys with Noonan syndrome having reduced fertility; fertility in girls is usually unaffected

lymphoedema – a build-up of fluid in the lymphatic system (a network of vessels and glands distributed throughout the body)

bone marrow problems – a small number of people can develop an abnormal white blood cell count; this can sometimes get better on its own, but can occasionally turn into leukaemia

A variety of different tumours (cancerous growths) have also been found in people with Noonan syndrome, but it’s often not clear if these are caused by the condition or occur by chance.

Overall, the risk of developing cancer doesn’t appear to be much higher than for people without Noonan syndrome, although there may be a very small increased risk of some rare childhood cancers.

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Peripheral neuropathy – more about the symptoms of peripheral neuropathy

peripheral neuropathy

peripheral neuropathy

Symptoms vary according to the type of peripheral neuropathy and may develop quickly or slowly.

The main types of peripheral neuropathy include:

sensory neuropathy – damage to the nerves that carry messages of touch, temperature, pain and other sensations to the brain

motor neuropathy – damage to the nerves that control movement

autonomic neuropathy – damage to the nerves that control involuntary bodily processes, such as digestion, bladder function and control of blood pressure

mononeuropathy – damage to a single nerve outside of the central nervous system

In many cases, someone with peripheral neuropathy may have more than one of these types at the same time.

A combination of sensory and motor neuropathy is particularly common (sensorimotor polyneuropathy).

The symptoms of the main types of peripheral neuropathy are described below.

Sensory neuropathy

Symptoms of sensory neuropathy can include:

prickling and tingling sensation in the affected body part (pins and needles)

numbness and less of an ability to feel pain or changes in temperature, particularly in your feet

a burning or sharp pain, usually in the feet

feeling pain from something that should not be painful at all, such as a very light touch (allodynia)

loss of balance or co-ordination caused by less ability to tell the position of the feet or hands (sensory ataxia)

Motor neuropathy

Symptoms of motor neuropathy can include:

twitching and muscle cramps

muscle weakness or paralysis affecting one or more muscles

thinning (wasting) of muscles

foot drop – difficulty lifting up the front part of your foot and toes, particularly noticeable when walking

Autonomic neuropathy

Damage to the autonomic nerves can result in a wide range of symptoms depending on where in the body the damage occurs.

Symptoms of autonomic neuropathy can include:

constipation or diarrhoea, particularly at night

feeling sick, bloating and belching

low blood pressure (postural or orthostatic hypotension), which can make you feel faint or dizzy when standing up

rapid heartbeat (tachycardia)

excessive sweating or a lack of sweating

problems with sexual function, such as erectile dysfunction in men

difficulty fully emptying your bladder of urine

bowel incontinence (loss of bowel control)

Mononeuropathy

Depending on the specific nerve affected, symptoms of mononeuropathy can include:

altered sensation or weakness in the fingers

double vision or other problems with focusing your eyes, sometimes with eye pain

weakness of one side of your face (Bell’s palsy)

foot or shin pain, weakness or altered sensation

The most common type of mononeuropathy is carpal tunnel syndrome (CTS). The carpal tunnel is a small tunnel in your wrist.

In CTS, the median nerve becomes compressed where it passes through this tunnel, which may cause tingling, pain or numbness in the fingers.

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Myositis – find out if this muscle condition affects you!

Myositis

Myositis

Introduction

Myositis is a rare condition that affects the muscles. The term myositis means “inflammation of the muscles”.

The main signs are muscle weakness, painful or aching muscles, tripping or falling, and extreme tiredness after walking or standing. If you have any of these symptoms you should see your GP.

Myositis is usually caused by an underlying problem with the immune system, where it mistakenly attacks healthy tissue.

 

Types of myositis

There are different types of myositis which all affect the muscles, including:

  • polymyositis – which affects many different muscles, particularly the shoulders, hips and thigh muscles; it’s more common in women and tends to affect people aged 30 to 60
  • dermatomyositis – which as well as affecting the muscles causes a rash; it’s also more common in women and affects both adults and children
  • post-infectious reactive myositis – which you can get after some viral infections and causes the muscles to become inflamed; this type of myositis is usually mild and settles without treatment
  • inclusion body myositis (IBM) – which causes muscle weakness in the quadriceps (main thigh muscles), weakness in the forearm muscles that flex the fingers, and weakness in the muscles below the knee, which can cause foot drop, making it difficult to lift the front part of your foot and toes and causing the foot to drag on the ground when walking; IBM is more common in men and tends to occur after the age of 50

The UK-based charity, Myositis UK, has more information about the different types of myositis.

See below for more detailed information about polymyositis and dermatomyositis, the two most common types of myositis.

There are at least three distinct patterns that can occur in people with myositis. Some people have:

  • severe symptoms (acute myositis) that may settle in one to two years
  • longer-lasting or persistent symptoms (chronic persistent disease)
  • symptoms that tend to come and go (relapsing disease)

Symptoms of polymyositis

Polymyositis affects many different muscles, particularly around the neck, shoulders, back, hips and thighs.

Symptoms include:

  • muscle weakness
  • aching or painful muscles
  • extreme tiredness
  • generally feeling unwell
  • other more generalised symptoms, including joint pain and occasionally swelling, and shortness of breath

The muscle weakness may vary from week to week or month to month, although it tends to steadily get worse without treatment.

You may find it difficult to get up from a chair, climb stairs, lift objects, and comb your hair. The muscle weakness can become so severe that even picking up a cup of tea can be difficult.

If your neck muscles are affected, you may find it hard to hold your head up. If your throat or chest muscles are affected, you may also have breathing and swallowing difficulties.

Symptoms of dermatomyositis

Dermatomyositis also affects the muscles and the symptoms are similar to those of polymyositis (see above). But in addition there’s also a distinctive rash.

Before the muscle symptoms occur, a red or purple-coloured rash often appears on the face (eyelids, nose and cheeks), back, upper chest, elbows, knees and knuckles. The rash can be itchy or painful, and you may also get hard lumps of tissue under the skin called calcinosis.

Diagnosing myositis

Your GP will ask you about your symptoms and examine you. If they think you may have myositis, you’ll need to have some tests to help rule out other conditions with similar symptoms.

Tests you may have include:

  • blood tests – to check for raised levels of enzymes and antibodies in your blood
  • muscle or skin biopsy – a small sample of muscle tissue and/or skin may be taken so it can be examined for inflammation, damage and other abnormalities
  • magnetic resonance imaging (MRI) scans – modern scanners are able to accurately detect the extent of inflammatory changes in the muscles and distinguish areas of true inflammation from other areas close by, where the muscle fibres have been replaced by fat or fibrous tissue
  • electromyography (EMG) – a small needle-shaped electrode is inserted through your skin and into your muscle, using a local anaesthetic, to record the electrical signals from the nerve endings in your muscles; an abnormal pattern of electrical activity may indicate that you have polymyositis or dermatomyositis

Treating myositis

Exercise and physiotherapy

You must be very careful about exercising if you have severe symptoms of myositis, such as severe muscle pain and weakness. Most specialists don’t recommend exercising during this period.

However, it’s very important to maintain gentle muscle and joint movement, particularly in cases where myositis develops during childhood. This ensures that the joints which are moved by muscles don’t become stiff and take on a fixed position.

As the condition is brought under control, a gentle exercise programme can be started and gradually increased following the advice of a physiotherapist.

Intravenous immunoglobulin therapy

Intravenous immunoglobulin therapy may be needed in very severe cases of myositis where severe muscle weakness is causing life-threatening breathing or swallowing problems.

It involves having an injection of normal antibodies from donated blood. This temporarily changes the way your immune system operates.

Intravenous immunoglobulin therapy can produce a rapid improvement in the symptoms of myositis, but it’s very expensive and the benefits usually only last a few weeks.

Therefore, it isn’t suitable as a long-term treatment, and is usually only used to treat people who are seriously ill while they’re waiting for other treatments to work.

Biologic therapies

It’s thought that biologic therapies, which are widely used to treat conditions such as rheumatoid arthritis and psoriatic arthritis, may also play a part in managing myositis in people whose symptoms don’t respond to conventional steroids and immunosuppressive medication.

For example, rituximab is a biological medicine which helps reduce inflammation that’s recently been approved for treating myositis. It’s given by intravenous infusion (directly into a vein through an intravenous line, needle or catheter) on two occasions two weeks apart and may be repeated months or years later.

Outlook

Most people with myositis respond to a combination of steroid and immunosuppressive therapy, alongside carefully-controlled exercise.

Steroids are often needed, in very low doses, for several years as well as immunosuppressive medication. This can lead to an increased risk of infection which in most cases can be easily managed with antibiotics if it becomes a problem.

Complications of myositis

Some people with myositis respond less well to treatment and find the condition significantly affects their everyday activities and quality of life. But continuing to exercise usually helps improve muscle strength.

If you have severe myositis, you may develop breathing and swallowing problems. Speech and language therapy may be recommended if you’re having problems swallowing or it’s affecting your ability to communicate.

In rare cases, myositis can be associated with cancer, and you may be offered tests to check for cancer.

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Temporomandibular disorder – an overview of the signs and symptoms

Temporomandibular disorder

Temporomandibular disorder

Introduction

Temporomandibular disorder (TMD) is a problem affecting the ‘chewing’ muscles and the joints between the lower jaw and the base of the skull.

Doctors sometimes refer to the condition as “myofascial pain disorder”.

It’s been estimated that up to 30% of adults will experience TMD at some point in their lives.

The condition itself isn’t usually serious, and the symptoms it can cause – including pain, jaw joint clicking or popping, and difficulties eating – usually only last a few months before getting better.

However, these symptoms can significantly lower quality of life, and specialist treatment might be required if they’re severe.

What are the symptoms?

TMD can cause:

  • clicking, popping or grating noises as you chew or move your mouth
  • muscle pain around the jaw
  • pain in front of the ear that may spread to the cheek, ear and temple
  • difficulty opening the mouth – the jaw may feel tight, as if it is stuck, making eating difficult
  • headache or migraine
  • earache or a “buzzing” or blocked sensation in the ear
  • pain in other areas of the body – such as neckache or backache

These symptoms may lead to related symptoms, such as disturbed sleep.

What are the causes?

Possible causes of TMD include:

  • clenching your jaw or grinding your teeth during sleep (bruxism) – which overworks the jaw muscles and puts pressure on the joint (often caused by stress)
  • wear and tear of the inside of the jaw joint – usually caused by osteoarthritis
  • injury to the jaw joint – for example, after a blow to the face or surgery
  • stress – some people may inherit increased sensitivity to pain or stress
  • uneven bite – for example, when new fillings, dental crowns or dentures are fitted
  • specific diseases – TMD may be associated with specific diseases such as rheumatoid arthritis, gout or fibromyalgia

However, some people may develop TMD without an obvious cause being found.

How is TMD treated?

If you have TMD, see your GP or dentist first for diagnosis and to discuss treatment options.

Generally, non-surgical treatments such as lifestyle changes and self-help physiotherapy-type treatments are tried first.

A small number of people with severe TMD may be referred to an oral and maxillofacial surgeon to discuss further treatment options.

Lifestyle changes

There are a number of self-help measures that can help improve TMD, including:

  • resting the joint by eating soft food and avoiding chewing gum
  • holding a warm or cold flannel to the jaw for 10-20 minutes, several times a day
  • doing a few gentle jaw-stretching exercises – your healthcare professional can recommend appropriate exercises
  • avoiding opening the joint too wide until the pain settles
  • avoiding clenching the teeth for long periods of time
  • massaging the muscles around the joint
  • relaxation techniques to relieve stress
  • not resting your chin on your hand

Mouth guards

Mouth guards (plastic devices that fit over your teeth) may be helpful if you grind your teeth.

These cover the teeth at night to reduce jaw clenching and teeth grinding, and can be made to measure by your dentist.

Read more about treatments for teeth grinding.

Medication

Painkillers such as paracetamol, ibuprofen or codeine can help relieve the pain associated with TMD.

If these aren’t enough to control the pain, your doctor may prescribe stronger medication such as a muscle relaxant or antidepressant.

Steroid injections

If TMD is caused by a disease such as arthritis, a steroid injection into the jaw joint can help reduce pain and swelling in a joint or the surrounding soft tissue.

Most people report feeling less pain within the first 24 hours to one week.

You may find your pain improves for a period of a few weeks to several months and, in some cases, the injection resolves the pain completely.

Read more about corticosteroids (steroids).

Surgery

If the above measures don’t help and the source of your symptoms is the temporomandibular joint – rather than the chewing muscles – your specialist may suggest a surgical treatment such as arthrocentesis (joint wash-out).

Open joint surgery may be considered in the rare cases where there is an abnormality within the joint.

Total joint replacement may be recommended for an extremely small number of people with severe, long-lasting symptoms and impaired jaw function. The National Institute for Health and Care Excellence (NICE) has produced guidelines on this procedure.

Read the NICE 2009 guidelines on artificial total temporomandibular joint replacement.

All joint surgery can have significant side effects and you should discuss these with your surgeon.

Outlook

Most cases of TMD improve over time and do not get worse, and most people will not need surgery.

In the meantime, symptoms can often be improved with the treatments mentioned above.

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Charcot-Marie-Tooth disease- signs and symptoms

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage the peripheral nerves.

It’s also known as hereditary motor and sensory neuropathy (HMSN).

The peripheral nerves are found outside the main central nervous system (brain and spinal cord). They control the muscles and relay sensory

information, such as the sense of touch, from the limbs to the brain.

People with CMT may have:

muscle weakness in the feet, ankles, legs and hands

an awkward way of walking (gait)

highly arched or very flat feet

numbness in the feet, arms and hands

The symptoms of CMT usually start to appear between the ages of five and 15, although they sometimes don’t develop until well into middle age or later.

CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult.

Read more about the symptoms of CMT

What causes CMT?

CMT is caused by an inherited fault in one of the many genes responsible for the development of the peripheral nerves. This fault means the nerves become damaged over time.

A child with CMT may have inherited the genetic fault responsible for the disease from one or both of their parents.

There’s no single faulty gene that causes CMT. There are many varieties of CMT that are caused by different genetic faults and these can be inherited in several different ways.

The chances of passing CMT to your child depend on the specific genetic faults you and your partner carry.

Read more about the causes of CMT.

Testing for CMT

See your GP if you think you may be developing symptoms of CMT. If your GP suspects CMT, they’ll refer you to a neurologist (a doctor who specialises in treating conditions of the nervous system) for further tests to confirm the diagnosis.

You should also see your GP if you or your partner have a family history of CMT and are considering having a baby. Your GP can refer you for genetic counselling, where you can discuss your concerns and the options available with a genetics specialist.

Read more about diagnosing CMT.

How CMT is treated

There’s currently no cure for CMT. However treatments can help relieve symptoms, aid mobility and increase the independence and quality of life for people with the condition.

These treatments may include:

physiotherapy and certain types of exercise

occupational therapy

walking aids

In some cases, surgery may be needed to correct problems such as flat feet and muscle contractures (where muscles shorten and lose their normal range of movement).

Read more about treating CMT.

Living with CMT

CMT isn’t life-threatening and most people with the condition have the same life expectancy as a person without the condition.

However, it can make everyday activities very difficult. Living with a long-term, progressive condition can also have a significant emotional impact.

Some people find it helpful to speak to others with the condition through support groups. You may also benefit from a talking therapy, such as cognitive behavioural therapy (CBT).

You can find more information, support and practical advice about living with CMT on the CMT UK website. CMT UK is the main charity and support group for people with CMT in the UK.