Lesch-Nyhan syndrome medical therapy

Revision as of 19:11, 26 July 2016 by Anthony Gallo (talk | contribs) (Categories)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search

Lesch-Nyhan syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Lesch-Nyhan syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Lesch-Nyhan syndrome medical therapy On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Lesch-Nyhan syndrome medical therapy

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Lesch-Nyhan syndrome medical therapy

CDC on Lesch-Nyhan syndrome medical therapy

Lesch-Nyhan syndrome medical therapy in the news

Blogs on Lesch-Nyhan syndrome medical therapy

Directions to Hospitals Treating Lesch-Nyhan syndrome

Risk calculators and risk factors for Lesch-Nyhan syndrome medical therapy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Overview

Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.[1]

Treatment

Nephrolithiasis

Spasticity

Self-mutilating injury

  • No method of treatment for the neurobehavioral aspects of the disease has been effective. Even children treated from birth with allopurinol develop behavioral and neurologic problems, despite never having had high serum concentrations of uric acid.
  • Self-injurious and other behaviors are best managed by a combination of medical, physical, and behavioral interventions.
  • The self-mutilation is often reduced by using restraints.
  • Sixty percent of individuals have their teeth extracted in order to avoid self-injury, which families have found to be an effective management technique.
  • Because stress increases self-injury, behavioral management through aversive techniques (which would normally reduce self-injury) actually increases self-injury in individuals with LNS.
  • Nearly all affected individuals need restraints to prevent self-injury, and are restrained more than 75% of the time. This is often at their own request, and occasionally involves restraints that would appear to be ineffective, as they do not physically prevent biting. Families report that affected individuals are more at ease when restrained.

An article in the August 13, 2007 issue of The New Yorker magazine, written by Richard Preston, discusses "Deep-brain stimulation," as a possible treatment. It has been performed on a few patients with Lesch-Nyhan syndrome by Dr. Takaomi Taira in Tokyo and by a group in France led by Dr. Philippe Coubes. Some patients experienced a decrease in spastic self-injurious symptoms. The technique was developed for treating people with Parkinson's disease, according to Preston, over 20 years ago. The treatment involves invasive surgery to place wires that carry a continuous electric current into a specific region of the brain.[2]

References

Template:WH Template:WS