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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Juvenile primary lateral sclerosis


Other Names for this Disease
  • JPLS
  • PLS juvenile
  • Primary lateral sclerosis, juvenile
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Overview



What is juvenile primary lateral sclerosis?

What are the signs and symptoms of juvenile primary lateral sclerosis?

What causes juvenile primary lateral sclerosis?

How is juvenile primary lateral sclerosis inherited?


What is 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. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 3/4/2011

What are the signs and symptoms of 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. 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, 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.[1]
Last updated: 3/4/2011

What causes juvenile primary lateral sclerosis?

Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 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 decays rapidly, or it is disabled and cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.[1]
Last updated: 3/4/2011

How is juvenile primary lateral sclerosis inherited?

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.[1]
Last updated: 3/4/2011

References
  1. Juvenile primary lateral sclerosis. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis. Accessed 3/4/2011.