Dystonia is a heterogeneous movement disorder featuring sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures or both. Dystonic movements are typically patterned and twisting, even tremulous. It is generally initiated or worsened by voluntary action and associated with overflow muscle activation. Out of the different types of dystonia, focal dystonia, more specifically cervical dystonia is the most common and is approximately 10 times more frequent than generalized dystonia. Their clinical heterogeneity accounts for a profound effect on the personal, vocational, and emotional life of a patient and can impact greatly his/her ability to live independently. Dystonia may be inherited, acquired, or idiopathic. A strong genetic component has been identified in familial dystonia syndromes.
The Igenomix Dystonia Precision Panel can serve as an accurate and directed diagnostic tool ultimately as well as a differential diagnosis of muscle cramps leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of pharmacologic therapy with anticholinergics, intramuscular botulinum toxin injection and/or deep brain stimulation.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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