Hereditary Spastic Paraplegia (HSP) includes a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts responsible for movement and sensation. HSPs are differentiated into “pure” forms if there is bladder involvement and “complicated” if there are additional neurologic or systemic abnormalities. The genetic classification of HSP is based upon the mode of inheritance, chromosomal locus, and causative mutation. Modes of inheritance include autosomal dominant, autosomal recessive and X-linked forms. The correlation of clinical classification with genetic classification is not yet defined as some genetic types of HSP are associated with both pure and complex phenotypes.
The Igenomix Hereditary Spastic Paraplegia Precision Panel can serve as an accurate and directed diagnostic tool as well as a 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.
The Igenomix Hereditary Spastic Paraplegia Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with or without the following manifestations:
- Leg weakness
- Leg spasticity
- Brisk tendon reflexes
- Extensor plantar reflex
- Bladder dysfunction (urinary urgency)
- Visual loss
- Hearing loss
- Difficulty speaking
- Peripheral neuropathy
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 for symptomatic treatment to improve mobility, increase range of motion and relieve discomfort using pharmacologic treatment as well as physical medicine and rehabilitation.
- 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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