Lesch-Nyhan syndrome

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Lesch-Nyhan syndrome
Philip Baker.jpg
Philip Baker, an adult with Lesch-Nyhan Syndrome. Visible in this picture are the restraints on Philip's chair that he must use to control his involuntary movement.
ICD-10 E79.1
ICD-9 277.2
OMIM 308000 300322
DiseasesDB 7415
MedlinePlus 001655

Lesch-Nyhan syndrome Microchapters

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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

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CT

MRI

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Treatment

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Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

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

Synonyms and Keywords: Hypoxanthine-guanine phosphoribosyltranferase deficiency; HGPRT-1 deficiency; HGPRT deficiency; Nyhan's syndrome; LNS

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

External links

da:Lesch-Nyhans syndrom de:Lesch-Nyhan-Syndrom it:Sindrome di Lesch-Nyhan




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