LESCH-NYHAN DISEASE: MNEMONICS

Lesch-Nyhan Disease

Lesch-Nyhan Disease, generally known as Lesch- Nyhan Syndrome or simply Lesch- Nyhan, is a rare and severe inheritable disorder that affects the central nervous system. Named after the American pediatrician Michael Lesch and his British coworker William Nyhan, the disease is characterized by a deficiency of the enzyme hypoxanthine- guanine phosphoribosyltransferase( HGPRT). This enzymatic insufficiency leads to a range of neurological and behavioral abnormalities, making it a largely enervating condition.

In this article, we will explore the mnemonic” LESCH” to more understand the pivotal features and implications of Lesch- Nyhan Disease.

L-Long arm of the X chromosome

Lesch-Nyhan Disease is an X-linked recessive disorder, meaning the defective gene responsible for the condition is located on the X chromosome’s long arm( q). Since males have only one X chromosome, a single mutated gene from their mother is enough to cause the disease. Females, on the other hand, generally carry two X chromosomes, and if one carries the defective gene, they may become carriers but not experience the severe symptoms seen in affected males.

E- Extrapyramidal sign( dystonic movement)

Extrapyramidal signs are neurological symptoms that manifest as involuntary muscle movements. In Lesch-Nyhan Disease, these movements frequently include dystonia, which involves sustained or repetitious muscle contractions, leading to twisting and abnormal postures. Affected individualities may witness difficulty in controlling their movements, leading to significant impairment in their ability to perform diurnal activities.

S-Self- mutilating( self-injurious behavior)

One of the most distressing and characteristic features of Lesch-Nyhan’s Disease is self- mutilating or self-injurious behavior. Individualities with this condition may bite or tear at their lips, fingers, or other body parts. This behavior is believed to be a result of a combination of neurological abnormalities, sensitive disturbances, and an incapability to control movements. The self-injurious behavior frequently leads to severe physical injuries, further complicating the management of the disease.

C- Choreoathetoid movement

Choreoathetoid movements are another type of involuntary movement seen in Lesch-Nyhan Disease. These movements involve a combination of chorea( jerky, dance-like movements) and athetosis( slow, writhing movements). The choreoathetoid movements contribute to the significant motor impairment endured by those affected, affecting their ability to walk, talk, and perform everyday tasks.

H- HGPRT deficiency

It results from a deficiency of the enzyme hypoxanthine- guanine phosphoribosyltransferase( HGPRT), which plays a pivotal part in the purine salvage pathway. Without this enzyme, the body can not effectively reclaim purines, accumulating uric acid in the body. Elevated uric acid situations can beget a condition called hyperuricemia, which can lead to kidney stones, gout, and other related complications.

Conclusion

Lesch-Nyhan Disease is a ruinous inheritable disorder with profound neurological and behavioral effects. The mnemonic” LESCH” serves as a useful tool to flash back the crucial features of this condition, including its X-linked recessive inheritance pattern, extrapyramidal signs, self- mutilating behavior, choreoathetoid movements, and the underpinning HGPRT deficiency. Managing the challenges posed by Lesch-Nyhan Disease requires a multidisciplinary approach, involving medical, cerebral, and probative care. While there’s presently no cure for this complaint, ongoing exploration aims to ameliorate treatment options and enhance the quality of life for individualities and families affected by Lesch- Nyhan Disease.