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Myotonia Congenita

Myotonia Congenita is a genetic condition where muscles cannot relax after they have contracted. It can result in disabling spasms that can cause falls or affect your mobility or function. At Liverpool Neuro Physio we know the importance of physiotherapy in managing this condition and minimising the risk of falling.



What is Myotonia Congenita?

Myotonia Congenita is a genetic condition affecting the ability of a muscle to relax. Myotonia Congenita is caused by a genetic mutation affecting a particular protein involved with the contraction and relaxation of skeletal muscle (any muscle you can contract voluntarily, e.g. those in your arms and legs). Myotonia Congenita has a genetic cause, so it is inherited from parents and you are born with it. Myotonia Congenita is also called Congenital Myotonia.

In normal muscle special channels within the muscle fibres open and allow chloride ions into the muscle, which stops the muscle from contracting. With Myotonia Congenita these channels do not work properly and result in a more sustained muscle contraction that the person cannot control. This feels like once you have tensed up a muscle it stays contracted and will not relax the term for this is Myotonia.

People with Myotonia Congenita can present in many different ways, but the two main classifications are called Thomsen disease, where symptoms start in infants with muscles most affected in the face and arm, and Becker type myotonia congenita, where symptoms come on in early childhood but can be more severe and affect the leg muscles.

There are more than 80 ways the genes can be mutated, so the severity of Myotonia Congenita differs enough that classifications are not always used. It is estimated than 1 in 100,000 people are affected by the condition throughout the world.


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Effects of Myotonia Congenita

The main effect of Myotonia Congenita is the myotonia the inability to relax a muscle. Myotonia can often lead to falls, and sometimes the shock of a fall can cause multiple muscles to contract and result in parts of the body becoming rigid and feeling paralysed. The paralysis subsides as the muscles relax.

Myotonia can be made worse by cold weather, reduced activity, sudden quick movements or adrenaline (from shock or stress). At Liverpool Neuro Physio we recognise that myotonia can also cause stiffness in joints, muscle weakness and increase the risk of falls that could result in injury. With a variety of techniques and exercises your physiotherapist can help to address these problems.


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Physiotherapy treatment for Myotonia Congenita

With Liverpool Neuro Physio you will receive an initial assessment from an experienced neurological physiotherapist who will look at all areas of your muscle strength, flexibility and your general mobility.

Your physiotherapist will help to advise you on special techniques called the warm up effect to help alleviate the muscle spasms caused by the condition. The warm up effect is the act of gently repeating a particular movement in order to relax the muscle. Your physiotherapist will also plan an exercise programme to help promote muscle strength and flexibility, aiming to target the effects of the myotonia and also prevent inactivity that can make it worse.

Your mobility will be closely assessed and any risk of falls identified so that the right exercises or equipment can be prescribed to minimise the risk and maintain your mobility and independence.


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Benefits of physiotherapy treatment for Myotonia Congenita

With physiotherapy you can aim to manage the muscle contractions caused by Myotonia Congenita, and help maintain or improve your muscle strength and joint flexibility. Together with your physiotherapist you will set goals based on your personal needs, and work to continue or enhance your everyday function and mobility with reduced risk of falls.


To arrange an appointment or to speak to one of our specialists, call us on 0151 558 0188 or email office@liverpoolneurophysio.co.uk.


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