Hypotonia – what are the signs and symptoms?

Hypotonia

Hypotonia

Hypotonia is the medical term for decreased muscle tone.

Healthy muscles are never fully relaxed. They retain a certain amount of tension and stiffness (muscle tone) that can be felt as resistance to movement.

For example, a person relies on the tone in their back and neck muscles to maintain their position when standing or sitting up. Muscle tone decreases during sleep, so if you fall asleep sitting up, you may wake up with your head flopped forward.

Hypotonia isn’t the same as muscle weakness, although it can be difficult to use the affected muscles. In some conditions, muscle weakness sometimes develops in association with hypotonia.

It is most commonly detected in babies soon after birth or at a very young age, although it can also develop later in life.

Signs of hypotonia

Hypotonia present at birth is often noticeable by the time a child is six months old, if not before. Newborn babies and young children with severe hypotonia are often described as being “floppy”.

Signs of hypotonia in a child include:

  • having little or no control of their neck muscles, so their head tends to flop
  • feeling limp when held, as though they could easily slip through your hands
  • being unable to place any weight on their leg or shoulder muscles
  • their arms and legs hang straight down from their sides, rather than bending at their elbows, hips and knees
  • finding sucking and swallowing difficult
  • a weak cry or quiet voice in infants and young children

A child with hypotonia often takes longer to reach motor developmental milestones, such as sitting up, crawling, walking, talking and feeding themselves.

An adult with hypotonia may have the following problems:

  • clumsiness and falling frequently
  • difficulty getting up from a lying or sitting position
  • an unusually high degree of flexibility in the hips, elbows and knees
  • difficulty reaching for or lifting objects (in cases where there’s also muscle weakness)

What causes hypotonia?

Hypotonia is a symptom rather than a condition. It can be caused by a number of different underlying health problems, many of which are inherited.

Hypotonia can also sometimes occur in cerebral palsy, where a number of neurological (brain-related) problems affect a child’s movement and co-ordination, and after serious infections, such as meningitis.

In some cases, babies born prematurely (before the 37th week of pregnancy) have hypotonia because their muscle tone isn’t fully developed by the time they’re born. However, provided there are no other underlying problems, this should gradually improve as the baby develops and gets older.

Read more about the causes of hypotonia.

Diagnosing hypotonia

If your child is identified as having hypotonia, they should be referred to a specialist healthcare professional, who will try to identify the cause. The specialist will ask about your family history, pregnancy and delivery, and whether any problems have occurred since birth.

A number of tests may also be recommended, including blood tests, a computerised tomography (CT) scan, or a magnetic resonance imaging (MRI) scan.

Read more about how hypotonia is diagnosed.

Treating hypotonia

Depending on the cause, hypotonia can improve, stay the same or get worse over time.

Babies with hypotonia that results from being born prematurely will usually improve as they get older. Babies with hypotonia caused by an infection or another condition will usually improve if the underlying condition is treated successfully.

Unfortunately, it’s often not possible to cure the underlying cause of hypotonia. Hypotonia that has been inherited will persist throughout a person’s life, although the child’s motor development may steadily improve over time in cases that are non-progressive (don’t get worse).

Treatment can also help improve functions such as mobility and speech. In these cases, treatment may involve physiotherapy, occupational therapy, and speech and language therapy.

Paget’s disease – what is Paget’s disease and why you need to be informed?

Paget's disease

Paget’s disease

Paget’s disease of bone disrupts the normal cycle of bone renewal, causing bones to become weakened and possibly deformed.

It’s a fairly common condition in the UK, particularly in older people. It’s rare in people under 50 years of age.

There are treatments that can help keep it under control for many years, but it can cause persistent pain and a range of other problems in some people.

 

Symptoms of Paget's disease of bone

Paget's disease of bone can affect one or several bones. Commonly affected areas include the pelvis, spine and skull.

Symptoms can include:

constant, dull bone pain

joint pain, stiffness and swelling

a shooting pain that travels along or across the body, numbness and tingling, or loss of movement in part of the body

But in many cases there are no symptoms and the condition is only found during tests carried out for another reason.

Read more about the symptoms of Paget's disease of bone.

When to see your GP

See your GP if you have:

persistent bone or joint pain

deformities in any of your bones

symptoms of a nerve problem, such as numbness, tingling or loss of movement

Your GP can organise tests to check your bones and look for problems such as Paget's disease of bone.

Read more about how Paget's disease of bone is diagnosed.

Causes of Paget's disease of bone

Bone cells regenerate in a similar way to skin - old bone is removed and replaced by new bone. This is known as bone remodelling.

Two cells are responsible for this:

osteoclasts - cells that absorb old bone

osteoblasts - cells that make new bone

In Paget's disease of bone, something goes wrong with the osteoclast cells and they start to absorb bone at a much faster rate than usual.

The osteoblasts then try to produce new bone more quickly, but the new bone is larger and weaker than normal.

It's not clear what triggers this, but you're at a higher risk if you have a family history of Paget's disease of bone. You may inherit a genetic fault that means you're much more likely to develop the condition.

Treatments for Paget's disease of bone

There's currently no cure for Paget's disease of bone, but treatment can help relieve the symptoms.

If you don't have any symptoms, your doctor may suggest keeping an eye on your condition and delaying treatment until any problems occur.

The main treatments are:

bisphosphonate medication - medicines that help control bone regeneration

painkillers - usually over-the-counter painkillers such as paracetamol and ibuprofen

supportive therapies - including physiotherapyoccupational therapy and devices such as walking sticks or shoe inserts

surgery - this may be needed if further problems develop, such as fractures, deformities or severe joint damage

Ensuring you get enough calcium and vitamin D can also help. Some people may need to take supplements.

Read more about how Paget's disease of bone is treated.

Further problems caused by Paget's disease of bone

Paget's disease of bone can sometimes lead to further, potentially serious problems.

These include:

fragile bones that break more easily than normal

enlarged or misshapen bones

permanent hearing loss (if the skull is affected)

too much calcium in the blood

heart problems

in rare cases, bone cancer

Read more about possible complications of Paget's disease of bone.

Other types of Paget's disease

In addition to Paget's disease of bone, there are several other types of Paget's disease.

These include:

Paget's disease of the breast or nipple - a rare type of breast cancer

Paget's disease of the penis - a rare type of penile cancer

Paget's disease of the vulva - a rare type of vulval cancer

The general term "Paget's disease" is sometimes used to refer to Paget's disease of bone.

Kyphosis – an introduction

 

 

Kyphosis

Kyphosis

Kyphosis is curvature of the spine that causes the top of the back to appear more rounded than normal.

Everyone has some degree of curvature in their spine. However, a curve of more than 45 degrees is considered excessive.

Sometimes kyphosis doesn’t cause any symptoms other than the back appearing abnormally curved or hunched. However, in some cases the condition causes:

back pain and stiffness

tenderness of the spine

tiredness

Back pain can be particularly problematic in adults with kyphosis because the body has to compensate for the spinal abnormality.

If you have severe kyphosis, your symptoms may get worse over time. You may also have difficulty breathing and eating.

What causes kyphosis?

In kyphosis, the normal curve in the middle section of vertebral column (the thoracic vertebrae) is more curved than normal. There are a number of reasons why this might happen, including:

poor posture (postural kyphosis) – slouching, leaning back in chairs and carrying heavy bags can stretch supporting muscles and ligaments, which can increase spinal curvature

abnormally shaped vertebrae (Scheuermann’s kyphosis) – if the vertebrae don’t develop properly, they can end up being out of position

abnormal development of the spine in the womb (congenital kyphosis) – if something disrupts the spine’s normal development, two or more vertebrae sometimes fuse together

age – as people get older, their spinal curvature can be expected to increase

Kyphosis can also develop as a result of a spinal injury.

Read more about the causes of kyphosis.

Treating kyphosis

If you have kyphosis, your treatment depends on how curved your spine is, whether you have any additional symptoms such as back pain, and the underlying causes.

Children with kyphosis may be able to be treated using non-surgical methods, such as bracing, to limit the progression of kyphosis as they grow. Treatment for mild kyphosis may not be necessary.

Kyphosis rarely requires surgical treatment. It’s only needed in some severe cases to correct the curvature of the spine.

Read more about treating kyphosis.

Emotional issues

Older children with kyphosis may become concerned or embarrassed about the effect the condition has on their appearance, or having to wear a back brace.

These concerns can affect different children in different ways. Some children can become socially withdrawn and they may be reluctant to take part in activities, such as PE, where their condition may be exposed.

There are no easy answers to these problems, but it can sometimes help to reassure your child that their feelings will improve with time.

Complications

Complications of kyphosis usually only occur in more severe cases. They include:

persistent pain that can’t be controlled with medication

breathing difficulties caused by the spine compressing the lungs and airways

Occasionally, people with kyphosis can have difficulties when the nerves running through the spine become compressed or pinched. This can disrupt nerve signals and cause symptoms such as:

numbness or weakness in the arms and legs

problems with sense of balance

loss of normal bladder or bowel control

These serious complications require urgent medical attention and surgery would usually be recommended.

Can kyphosis be prevented?

Postural kyphosis can be prevented by being aware of your posture and by taking care of your back. You should encourage your child to:

avoid slouching

sit correctly – sit upright, ensuring that the small of the back is supported

avoid carrying heavy schoolbags that can pull on the back muscles and ligaments; the best schoolbags are well-designed backpacks

take regular exercise (see below) to help strengthen the back and keep it flexible; activities such as swimming, running, walking, yoga and pilates are ideal for helping to prevent back problems

Osteoporosis – what are the causes of osteoporosis?

Osteoporosis

Osteoporosis

Osteoporosis causes bones to become less dense and more fragile. Some people are more at risk than others.

Bones are at their thickest and strongest in your early adult life and their density increases until your late 20s. You gradually start losing bone density from around the age of 35.

This happens to everyone, but some people develop osteoporosis and lose bone density much faster than normal. This means they’re at greater risk of a fracture.

Risk groups

Osteoporosis can affect men and women. It’s more common in older people, but it can also affect younger people.

Women

Women are more at risk of developing osteoporosis than men because the hormone changes that occur in the menopause directly affect bone density.

The female hormone oestrogen is essential for healthy bones. After the menopause (when monthly periods stop), oestrogen levels fall. This can lead to a rapid decrease in bone density.

Women are at even greater risk of developing osteoporosis if they have:

an early menopause (before the age of 45)

hysterectomy (removal of the womb) before the age of 45, particularly when the ovaries are also removed

absent periods for more than six months as a result of overexercising or too much dieting

Men

In most cases, the cause of osteoporosis in men is unknown. However, there’s a link to the male hormone testosterone, which helps keep the bones healthy.

Men continue producing testosterone into old age, but the risk of osteoporosis is increased in men with low levels of testosterone.

In around half of men, the exact cause of low testosterone levels is unknown, but known causes include:

the use of certain medications, such as oral corticosteroids

alcohol misuse

hypogonadism (a condition that causes abnormally low testosterone levels)

Risk factors

Many hormones in the body can affect the process of bone turnover. If you have a condition of the hormone-producing glands, you may have a higher risk of developing osteoporosis.

Hormone-related conditions that can trigger osteoporosis include:

hyperthyroidism (overactive thyroid gland)

disorders of the adrenal glands, such as Cushing’s syndrome

reduced amounts of sex hormones (oestrogen and testosterone)

disorders of the pituitary gland

hyperparathyroidism (overactivity of the parathyroid glands)

Other risk factors

Other factors thought to increase the risk of osteoporosis and broken bones include:

a family history of osteoporosis

a parental history of hip fracture

body mass index (BMI) of 19 or less

long-term use of high-dose oral corticosteroids (widely used for conditions such as arthritis and asthma), which can affect bone strength

having an eating disorder, such as anorexia or bulimia

heavy drinking and smoking

rheumatoid arthritis

malabsorption problems, as experienced in coeliac disease and Crohn’s disease

some medications used to treat breast cancer and prostate cancer which affect hormone levels

long periods of inactivity, such as long-term bed rest

Myasthenia gravis – signs , symptoms and causes

Myasthenia gravis

Myasthenia gravis

 

Myasthenia gravis is a rare long-term condition that causes muscle weakness that comes and goes.

It most commonly affects the muscles that control the eyes and eyelids, facial expressions, chewing, swallowing and speaking. But it can affect most parts of the body.

It can affect people of any age, typically starting in women under 40 and men over 60.

 

Symptoms of myasthenia gravis

Common symptoms of myasthenia gravis include:

droopy eyelids

double vision

difficulty making facial expressions

problems with chewing and difficulty swallowing

slurred speech

weak arms, legs or neck

shortness of breath and occasionally serious breathing difficulties

The symptoms tend to get worse when you’re tired. Many people find they are worse towards the end of the day, and better the next morning after getting some sleep.

Read more about the symptoms of myasthenia gravis.

When to see your GP

See your GP if you have long-lasting or worrying symptoms that could be caused by myasthenia gravis.

They will ask about your symptoms and medical history.

If your GP thinks you could have a condition like myasthenia gravis, they may refer you to a specialist for tests to help diagnose the condition or look for other possible causes of your symptoms.

These tests may include a blood test, a test of how well your nerves are working and some scans.

Read more about tests for myasthenia gravis.

Treatments for myasthenia gravis

Several treatments are available to help keep the symptoms of myasthenia gravis under control.

These include:

avoiding anything that triggers the symptoms – some people find that things such as tiredness and stress make their symptoms worse

medication to help improve muscle weakness

surgery to remove the thymus gland (a small gland in the chest linked to myasthenia gravis) – read about the causes of myasthenia gravis for more information

If the symptoms get suddenly worse – for example, you develop severe breathing or swallowing difficulties – you may need urgent treatment in hospital.

Read more about how myasthenia gravis is treated.

Outlook for myasthenia gravis

Myasthenia gravis is a long-term condition that typically has phases when it improves and phases when it gets worse.

It usually affects most of the body, spreading from the eyes and face to other areas over weeks, months or years. But in around one in five people, only the eye muscles are affected.

Treatment can usually help keep the symptoms under control so that people who have myasthenia gravis are able to live largely normal, symptom-free lives. Very occasionally it can get better on its own.

The condition can be life-threatening in severe cases, but it doesn’t have a significant impact on life expectancy for most people. In many cases, the symptoms are at their worst in the first two or three years after diagnosis.

Cause of myasthenia gravis

Myasthenia gravis is caused by a problem with the signals sent between the nerves and the muscles.

It’s an autoimmune condition, which means it’s the result of the immune system (the body’s natural defence against illness and infection) mistakenly attacking a healthy part of the body.

In myasthenia gravis, the immune system damages the communication system between the nerves and muscles, making the muscles weak and easily tired.

It’s not clear why this happens, but it has been linked to issues with the thymus gland (a gland in the chest that’s part of the immune system).

In many people with myasthenia gravis, the thymus gland is larger than normal, and in around 1 in 10 people there is abnormal growth of the thymus called a thymoma.