Article: Juvenile primary lateral sclerosis

What is juvenile primary lateral sclerosis?

Juvenile primary lateral sclerosis is a rare disorder characterized by the progressive weakness and stiffness in arm, leg, and facial muscles.

Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include difficulty with balance, clumsiness, weakness and stiffness in the legs, and muscle spasms. With time, weakness and stiffness in the arms and hands occur, as do slurred speech, drooling, and difficulty swallowing.

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 normally produces a protein called alsin. Alsin's function remains unknown, but it may help to regulate cell membrane organization and movement of molecules inside the cell. The ALS2 mutation causes the production of a shortened version of the alsin protein, which cannot function.

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.