Question: What is (are) juvenile primary lateral sclerosis ?
Answer: Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress slowly over many years. Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. As symptoms progress, the spasticity spreads to the arms and hands and individuals develop slurred speech, drooling, difficulty swallowing, and an inability to walk.
Source: GHR

Question: How many people are affected by juvenile primary lateral sclerosis ?
Answer: Juvenile primary lateral sclerosis is a rare disorder, with few reported cases.
Source: GHR

Question: What are the genetic changes related to juvenile primary lateral sclerosis ?
Answer: Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and is quickly broken down, or it cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.
Source: GHR

Question: Is juvenile primary lateral sclerosis inherited ?
Answer: When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR

Question: What are the treatments for juvenile primary lateral sclerosis ?
Answer: These resources address the diagnosis or management of juvenile primary lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Juvenile primary lateral sclerosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR