What is the diagnosis of Hereditary Spastic Paraplegia?

Hereditary spastic paraplegias refers to a clinically and genetically heterogenous disorders that are characterised by lower extremity spasticity and weakness. When the symptoms of this disease behind post childhood, they tend to progress steadily. When the symptoms start in early childhood, they tend to be non-progressive and resemble spastic diplegic cerebral palsy.

Diagnosis

Hereditary spastic paraplegias are diagnosed by the following ways:
•    The doctor starts with the analyses of some typical symptoms of this disease, weakness and neurological findings of lower extremity spasticity.
•    Family history; often times, if someone in the family such as a first-degree relative is affected by this disease, the patient is likely to have a greater risk of developing it.
•    The exclusion of other disorders.

The magnetic resonance imaging scan of the brain as well as spinal cord may be recommended to be taken, though in most cases, it is found to be normal. Some other aspects that are commonly found to be normal in uncomplicated HSP include cerebrospinal fluid studies, nerve conduction studies and electromyography.

Genetic Testing

Genetic testing has been becoming increasingly available and especially useful in the clinical diagnosis of HSP. Considering that molecular genetic testing currently does not include all the genes known to lead to HSP, an absence of the identified mutation in a gene that is known to cause HSP does not really exclude the diagnosis of HSP.

Genetic Counseling

The general types of HSP can be easily inherited in autosomal dominant, X-linked, autosomal recessive or maternally inherited style. Genetic counseling depends on an accurate diagnosis as well as determination of the mode of inheritance in every family. It may help in the determination of HSP’s genetic type.

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