About Infantile-onset ascending hereditary spastic paralysis

What is Infantile-onset ascending hereditary spastic paralysis?

Infantile-onset ascending hereditary spastic paralysis (IOAHP) is a rare, inherited neurological disorder characterized by progressive muscle weakness and spasticity (stiffness) of the legs. It typically begins in infancy or early childhood and gradually worsens over time. Affected individuals may experience difficulty walking, running, and climbing stairs. Other symptoms may include difficulty with fine motor skills, such as writing, and intellectual disability. IOAHP is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive manner. Treatment is supportive and may include physical therapy, occupational therapy, and medications to reduce spasticity.

What are the symptoms of Infantile-onset ascending hereditary spastic paralysis?

The symptoms of Infantile-onset ascending hereditary spastic Paralysis (IOAHP) vary from person to person, but typically include:

- Muscle Weakness and Spasticity (stiffness) in the legs, arms, and trunk
- Difficulty walking, running, and climbing stairs
- Difficulty with fine motor skills such as writing and buttoning
- Abnormal gait (walking pattern)
- Difficulty with balance and coordination
- Muscle contractures (permanent shortening of muscles)
- Scoliosis (curvature of the spine)
- Intellectual disability
- Seizures
- Visual impairment
- Hearing loss
- Speech and language delays

What are the causes of Infantile-onset ascending hereditary spastic paralysis?

Infantile-onset ascending hereditary spastic paralysis is caused by mutations in the SPG11 gene. This gene is responsible for producing a protein called spastin, which is involved in the breakdown of microtubules in cells. Mutations in this gene can lead to a decrease in the amount of spastin produced, resulting in the disruption of the normal functioning of the cells and the development of the disease.

What are the treatments for Infantile-onset ascending hereditary spastic paralysis?

The primary treatment for Infantile-onset ascending hereditary spastic paralysis is physical therapy. Physical therapy can help to improve muscle strength, coordination, and range of motion. Other treatments may include medications to reduce spasticity, orthopedic surgery to correct deformities, and assistive devices such as braces or wheelchairs. In some cases, stem cell therapy may be used to help improve muscle strength and function.

What are the risk factors for Infantile-onset ascending hereditary spastic paralysis?

1. Genetic mutation: Infantile-onset ascending hereditary spastic paralysis is caused by a mutation in the SPG11 gene.

2. Family history: Infantile-onset ascending hereditary spastic paralysis is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Age: Infantile-onset ascending hereditary spastic paralysis typically begins in infancy or early childhood.

Is there a cure/medications for Infantile-onset ascending hereditary spastic paralysis?

At this time, there is no cure for Infantile-onset ascending hereditary spastic paralysis. However, there are medications that can help manage the symptoms. These include baclofen, diazepam, and tizanidine. Physical therapy and occupational therapy can also help improve mobility and function.