L1 syndrome

From WikiMD.org
Jump to navigation Jump to search

L1 Syndrome

L1 syndrome (pronounced el-one syndrome) is a rare genetic disorder that primarily affects the nervous system.

Etymology

The term "L1" refers to the L1 cell adhesion molecule gene (L1CAM), which is mutated in individuals with this condition. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."

Definition

L1 syndrome is characterized by a range of features that can vary greatly in severity and occurrence. The most common features include hydrocephalus, spastic paraplegia, neuropathy, and intellectual disability.

Symptoms

The symptoms of L1 syndrome can vary greatly from person to person. Some individuals may have mild symptoms, while others may have severe symptoms. The most common symptoms include:

  • Hydrocephalus: This is a condition in which there is an accumulation of cerebrospinal fluid (CSF) in the brain. This leads to increased pressure inside the skull and can cause a variety of symptoms, including headaches, nausea, vomiting, and problems with balance.
  • Spastic paraplegia: This is a condition characterized by stiffness and contraction in the lower limbs. It is caused by damage to or dysfunction of the nerves that control muscle movement.
  • Neuropathy: This is a term for a range of conditions that affect the peripheral nerves, which are the nerves outside of the brain and spinal cord. Symptoms can include numbness, tingling, and pain in the affected areas.
  • Intellectual disability: This is a term used when there are limits to a person’s ability to learn at an expected level and function in daily life.

Causes

L1 syndrome is caused by mutations in the L1CAM gene. This gene provides instructions for making a protein that is important for the growth and guidance of nerve cells.

Treatment

There is currently no cure for L1 syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and special education services.

See also

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski