Autosomal Dominant Hereditary Spastic Paraplegia (ADHSP) is a genetic disorder characterized by progressive muscle weakness and stiffness in the lower extremities, resulting in difficulties with walking and mobility. It is considered "autosomal dominant" because the condition is inherited in an autosomal (non-sex) chromosome manner, and only one copy of the mutated gene from either parent is sufficient to cause the disorder.
The primary symptom of ADHSP is spasticity, which refers to muscle stiffness and tightness. This typically affects the legs, leading to difficulty in walking, a stiff-legged gait, and an increased risk of falling. As the condition progresses, individuals may also experience muscle weakness, muscle wasting, and a loss of sensation in the legs. ADHSP is a degenerative condition, meaning the symptoms tend to worsen over time.
The condition is caused by mutations in certain genes involved in the formation and maintenance of nerve cells, specifically those related to the corticospinal tract. The corticospinal tract is responsible for transmitting signals from the brain to the muscles, and mutations in these genes disrupt the normal functioning of this pathway, leading to the symptoms observed in ADHSP.
There is currently no cure for ADHSP, and treatment primarily focuses on managing the symptoms and improving quality of life. This may involve physical therapy, medications to reduce spasticity, assistive devices such as braces or canes, and mobility aids. Genetic counseling is also recommended for individuals with ADHSP and their families to better understand the inheritance pattern and potential risks for future generations.
