Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome.

  title={Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome.},
  author={Edward Dabrowski and Sarah A Smathers and Curt S Ralstrom and Michael A Nigro and Jimmie P Leleszi},
  journal={Developmental medicine and child neurology},
  volume={47 9},
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from a deficiency of the metabolic enzyme hypozanthine-guanine phosphoribosyltransferase (HPRT). This syndrome presents with abnormal metabolic and neurological manifestations including hyperuricemia, mental retardation*, spastic cerebral palsy (CP), dystonia, and self-mutilation. The mechanism behind the severe self-mutilating behavior exhibited by patients with LNS is unknown and remains one of the greatest obstacles in… CONTINUE READING


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Publications referenced by this paper.
Showing 1-10 of 18 references

Effects of botulinum toxin at the neuromuscular junction

M. Hallet
View 1 Excerpt

Effects of botulinum toxin type A on central nervous system function

A Berardelli, F Gilio, A. Curra
View 1 Excerpt

Oral self-mutilation in the Lesch-Nyhan syndrome.

ASDC journal of dentistry for children • 2002
View 1 Excerpt

Self-injurious behavior: gene-brain-behavior relationships.

Mental retardation and developmental disabilities research reviews • 2001

Scientific and Therapeutic Aspects of Botulinum Toxin

dystonia oromandibular, MF bruxism. In Brin, J Jankovic, M Hallet, editors

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