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Faster diagnosis and more effective treatment for muscle jerking thanks to next generation sequencing

13 November 2015

In patients who suffer from involuntary muscle jerks (myoclonus) it is often a difficult and time-consuming process to establish the cause of the underlying disease. Researchers from the UMCG have developed a new clinical plan that is the first to include next generation sequencing in the diagnostics. For many myoclonus patients this should speed up the time it takes to identify its cause, which means treatment can begin at an earlier stage, making it more effective. The researchers have published their new clinical algorithm in the leading journal Nature Review Neurology.

Patients with myoclonus suffer from involuntary muscle jerks in the face, neck, torso or limbs. This jerking can seriously affect their ability to perform everyday tasks such as eating and drinking. If the jerking is severe, it can cause instability while walking and frequent falls. The disease has many possible causes, and these are often hereditary. This makes it an expensive and time-consuming process to identify which of the more than 120 genes involved in myoclonus is the potential perpetrator. The process can take months or even years.

New diagnostic plan

With new forms of DNA sequencing, known as next generation sequencing, it is possible to test a few hundred genes at a time. Rodi Zutt, a trainee neurologist under the supervision of Professor Marina Tijssen, also a neurologist, and Dr Tom de Koning, a paediatrician specialised in metabolic diseases, has developed a new diagnostic plan that applies this new form of DNA sequencing.

The first step in the plan is to establish whether the disease has a secondary cause such as the side-effect of medication or an underlying infection. Then advice is given on the additional diagnosis of a number of specific disorders. For the group for whom no diagnosis has been established after these steps, next generation sequencing provides the opportunity to discover the cause of the myoclonus. All genes that are associated with myoclonus are looked at in one go here. The researchers expect to identify the cause of the disease in many more myoclonus patients both in a shorter time span (1-2 months) and at lower costs. Treatment can thus start sooner and is more effective.

Expertise centre for movement disorders

The UMCG is a recognized expertise centre for movement disorders that focuses on improving the diagnosis and treatment of patients with various forms of neurological movement disorder, such as dystonia (abnormal muscle tone), myoclonus (involuntary muscle jerks) and ataxia (coordination disorder). Patients not only from all over the Netherlands, but also from abroad are referred to the centre.

Here you will find the article in Nature Review Neurology. More information about the expertise centre for movement disorders you will find here and via

Source: press release UMCG, phone +31503612200

Last modified:17 November 2015 09.18 a.m.
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