A strange rare disease makes people self-enclosed involuntarily

The disease mostly affects men by deriving from a mutation in the X chromosome. It causes motor difficulties and may even lead to involuntary self-mutilation.

Lesch-Nyhan syndrome is a rare hereditary metabolic disease which predominantly affects males and causes a series of physical, neurological and behavioral symptoms. It is estimated to affect approximately 1 in 380,000 babies born in the United States, the syndrome is simultaneously debilitating and complex.

The disease is caused by mutations in the gene HPRT1located on the X chromosome. This gene encodes an essential enzyme for the recycling of purine, key compounds found in DNA and various body functions, refers.

When this recycling process fails, uric acid, a residual product, accumulates in the blood. This excess of uric acid forms crystals that can be lodged in the joints and kidneys, often leading the painful drop and the development of Kidney and bladder stones.

Lesch-Nyhan syndrome is considered recessive linked to Xwhich means that mainly affects men. Women are usually carriers of two X chromosomes and can compensate for a defective gene, but men have only one X chromosome and are therefore vulnerable if this gene is mutated. In most cases, the disease is transmitted by the family, although spontaneous mutations may cause the disease without family history.

In addition to metabolic problems, patients with lesch-nyhan syndrome suffer from severe behavioral symptoms. These include involuntary muscle movements, cognitive disability and Self-Milary Behaviorshow to bite your lips and fingers or hit your head. These behaviors are thought to be linked to low dopamine levels in the brain-an essential chemical for movement control.

Symptoms usually arise Before the first birthday of the child. Many affected individuals have difficulties with basic motor skills, need assistance to sit or walk, and often need wheelchairs to move.

At the moment, There is no cure For Lesch-Nyhan syndrome, but support care can prolong life expectancy up to 30 or 40 years. Treatment focuses on the management of symptoms through muscle relaxants, physical restrictions and, in extreme cases, Tooth removal to avoid self-mutilation.

Despite the medical advances, the main causes of the patient’s death are the Aspiration pneumoniaa pulmonary infection resulting from serious difficulties in swallowing, and renal failure.