Juvenile Primary Lateral Sclerosis

What is juvenile primary lateral sclerosis?

Juvenile primary lateral sclerosis is a rare disorder characterised by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurones, 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 over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, and weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk.

How common is juvenile primary lateral sclerosis?

Juvenile primary lateral sclerosis is a rare disorder, with a small number of reported cases.

What genes are related to juvenile primary lateral sclerosis?

Mutations in the ALS2 gene cause juvenile primary lateral sclerosis.

The ALS2 gene provides instructions for making a protein called alsin. Mutations in the ALS2 gene 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 unknown how the loss of functional alsin protein causes the death of motor neurones and the symptoms of juvenile primary lateral sclerosis.

How do people inherit juvenile primary lateral sclerosis?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for juvenile primary lateral sclerosis?

• JPLS
• juvenile PLS
• PLSJ
• primary lateral sclerosis, juvenile