Infantile-Onset Ascending Hereditary Spastic Paralysis

What is infantile-onset ascending hereditary spastic paralysis?

Infantile-onset ascending hereditary spastic paralysis 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 infantile-onset ascending hereditary spastic paralysis begin during infancy or early childhood and slowly worsen. Initial symptoms, which usually occur within the first 2 years of life, include weakness of the legs, and leg muscles that are abnormally tight and stiff. People with infantile-onset ascending hereditary spastic paralysis are usually wheelchair-bound by late childhood or early adolescence. Weakness and stiffness of arm muscles occur by age 8. Symptoms that develop during late childhood and early adolescence include slow eye movements and difficulty with speech and swallowing.

How common is infantile-onset ascending hereditary spastic paralysis?

Infantile-onset ascending hereditary spastic paralysis is a rare disorder, with a small number of reported cases.

What genes are related to infantile-onset ascending hereditary spastic paralysis?

Mutations in the ALS2 gene cause infantile-onset ascending hereditary spastic paralysis.

The ALS2 gene normally produces 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 infantile-onset ascending hereditary spastic paralysis.

How do people inherit infantile-onset ascending hereditary spastic paralysis?

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 infantile-onset ascending hereditary spastic paralysis?

• Hereditary Spastic Paraplegia
• IAHSP
• spastic paralysis, infantile onset ascending