Juvenile primary lateral sclerosis

Juvenile Primary Lateral Sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs and face. The disorder damages motor neurons, which are the specialized nerve cells in the brain and spinal cord that control movement.

ymptoms

Early Symptoms of the disorder begin in early childhood. They include clumsiness, muscle spasms, weakness and stiffness in legs, and difficulty with balance. As these symptoms progress over a period of 15 to 20 years, they become more serious. These later symptoms include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk.

Genetics

Juvenile Primary Lateral Sclerosis is inherited in an autosomal recessive pattern, and most often, parents of affected individuals do not show any signs or symptoms. Mutations in the ALS2 gene, found on Chromosome 2, are responsible for causing Juvenile Primary Lateral Sclerosis. Mutations in the ALS2 gene in this disorder disrupt the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is currently unknown how the loss of functional alsin protein causes the death of motor neurons and the symptoms of juvenile primary lateral sclerosis. [http://ghr.nlm.nih.gov/condition=juvenileprimarylateralsclerosis;jsessionid=FEAA139AE9E62722DCC03C4052757023] Mutations in the ALS2 gene cause juvenile primary lateral sclerosis. The ALS2 gene provides instrutions for making a protein called aslin.Alsin is abundant in moter neurons,but its function is not fully understood.Mutations in the ASL2 gene alter the instructions for producing aslin.