Hereditary X-linked recessive spastic paraplegia (HSP) is a rare genetic disorder characterized by progressive muscle weakness and stiffness in the lower limbs, resulting in difficulty walking and a spastic gait pattern. It is caused by mutations in genes located on the X chromosome, resulting in an inheritance pattern that predominantly affects males.
The term "hereditary" signifies that the condition is passed down from one generation to another through genetic factors. "X-linked" refers to the gene involved being located on the X chromosome, one of the sex chromosomes. Being recessive implies that two copies of the mutated gene, one from each parent, are necessary for the development of the disorder.
The main clinical feature of HSP is spasticity, which involves increased muscle tone leading to stiffness and rigidity, particularly in the legs. This can result in walking difficulties and an abnormal, stiff-legged gait. Other associated symptoms may include muscle wasting, bladder dysfunction, sensory disturbances, and muscle contractures.
Due to its genetic nature, the disorder tends to run in families, with affected individuals having a 50% chance of passing the mutated gene to their offspring. Genetic counseling is recommended for couples planning to have children to understand the risks and to make informed reproductive decisions.
Diagnosis of hereditary X-linked recessive spastic paraplegia typically involves a thorough clinical evaluation, family history analysis, and genetic testing. While there is currently no cure for HSP, treatment mainly focuses on managing symptoms and providing supportive measures, such as physical therapy and assistive devices, to improve mobility and quality of life for affected individuals.
