Charcot Marie Tooth disease (CMT) belongs to the spectrum motor and sensory neuropathies caused by mutations in genes encoding proteins that code for myelin, gap junctions and axonal structures within the peripheral nerves. It is the most prevalent inherited neuropathy. The association of different mutations within the same gene and various clinical phenotypes is a common finding and causes clinical and genetic heterogeneity. It is characterized by progressive distal weakness, muscle atrophy and sensory loss. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. The most important goal for patients with CMT is to maintain movement, muscle strength and flexibility.
The Igenomix Charcot Marie Tooth and Sensory Neuropathies Precision Panel can be used as a tool for an accurate diagnosis and differential diagnosis of muscle weakness ultimately 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, and their high or intermediate penetrance.
- The Igenomix Charcot Marie Tooth and Sensory Neuropathies Precision Panel is used for patients with a clinical suspicion or diagnosis presenting with or without the following symptoms:
- Distal sensory loss
- Distal muscle wasting and weakness
- Muscle atrophy
- Delayed motor development
- Steppage gait
- Ankle injuries
- Foot deformities: pes cavus and thin lower legs
- Family history of CMT or other sensory neuropathies
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment involving a multidisciplinary team in the form of orthopaedic care surgical treatment to prevent complications as well as physical therapy and rehabilitation.
- Risk assessment of asymptomatic family members according to the mode of inheritance via genetic counselling.
- Improvement of delineation of genotype-phenotype correlation given the variability of severity and course of disease.
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