It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life.
[2][5] The combination of muscle stiffness, joint contractures, and spinal deformities can make walking and other forms of mobility challenging for individuals with rigid spine syndrome.
[2][5] Depending on the severity of the condition, individuals with rigid spine syndrome may also experience fatigue, pain, and difficulty with activities of daily living.
[7][8] This gene provides instructions for making a protein called selenoprotein N, which plays a role in muscle function and development.
[10] In addition to mutations in the SEPN1 gene, other genetic and environmental factors may also play a role in the development of rigid spine syndrome.
The healthcare provider will assess the patient's muscle tone, range of motion, and any signs of spinal deformities or joint contractures.
This can help differentiate rigid spine syndrome from other muscle disorders and provide additional information about the underlying cause of the condition.
Early and aggressive management, including physical therapy, orthopedic interventions, and respiratory support, can help improve quality of life and slow disease progression.
Despite the progressive nature of rigid spine syndrome, many individuals are able to maintain a good quality of life with appropriate care and support.
[citation needed] Rigid spine syndrome can affect individuals of any age or gender, but it is most commonly diagnosed in childhood.
[13] The autosomal recessive inheritance pattern of rigid spine syndrome suggests that individuals with a family history of the condition are at increased risk.
[11] Research on rigid spine syndrome is ongoing, with a focus on understanding the underlying genetic and molecular mechanisms of the condition, developing new treatment approaches, and improving the quality of life for affected individuals.
These trials may involve medications, physical therapies, or surgical interventions aimed at improving mobility and quality of life for affected individuals.
[10] Patient registries are being established to collect data on individuals with rigid spine syndrome, including information on symptoms, disease progression, and treatment outcomes.
Future research in rigid spine syndrome is likely to focus on personalized medicine approaches, aimed at tailoring treatments to the specific genetic and molecular characteristics of individual patients.