Hereditary Autosomal Recessive Spastic Paraplegia (HAR-SPG) is a rare genetic disorder characterized by progressive lower-extremity weakness and muscle stiffness known as spasticity. It is inherited in an autosomal recessive manner, meaning that individuals must inherit a specific mutated gene from both parents to develop the condition.
The term "hereditary" indicates that this disorder runs in families and is caused by genetic mutations passed down through generations. "Autosomal" means the gene responsible for the condition is located on one of the non-sex chromosomes, known as autosomes. The word "recessive" implies that two mutated copies of the gene are required for symptoms to manifest, leading to the autosomal pattern of inheritance.
The main symptoms of HAR-SPG involve the lower limbs, which become increasingly weak and spastic over time. This results in difficulty in walking, stiffness, and sometimes, muscle wasting. The severity and progression of symptoms can vary widely among affected individuals.
Although there is no cure for HAR-SPG, treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to help individuals maintain mobility and function, medications to reduce spasticity, assistive devices such as braces or orthotics, and counseling to address emotional and psychological challenges.
In summary, Hereditary Autosomal Recessive Spastic Paraplegia is a rare genetic disorder characterized by the progressive stiffness and weakness of the lower limbs. It is inherited in an autosomal recessive manner and can severely impact an individual's mobility and daily life activities.
