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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hunter's syndrome: a case report.

N S Savitha, G Saurabh1, S H Krishnamoorthy

  • 1Department of Pedodontics and Preventive Dentistry, Kurunji Venkatramana Gowda Dental College, Sullia, Karnataka, India.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|January 10, 2015
PubMed
Summary

Hunter syndrome (MPS II) is a rare genetic disorder affecting multiple body systems. This case report emphasizes the crucial role of pediatric dentists in diagnosing and managing oral health in affected children.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pediatric Dentistry

Background:

  • Hunter syndrome (Mucopolysaccharidosis type II) is an X-linked recessive disorder impacting glycosaminoglycan metabolism.
  • It affects multiple systems, including nervous, cardiovascular, respiratory, and musculoskeletal, with significant oral manifestations.

Observation:

  • A 13-year-old boy presented with irregularly placed teeth, a symptom prompting referral to pediatric dentistry.
  • The patient was diagnosed with Hunter syndrome, a rare genetic metabolic disorder.

Findings:

  • The case highlights the importance of recognizing systemic conditions like Hunter syndrome in dental settings.
  • Pediatric dentists play a key role in the early diagnosis and comprehensive treatment planning for patients with MPS II.

Implications:

  • Early dental intervention can significantly improve the oral health outcomes for children with Hunter syndrome.
  • This case underscores the need for interdisciplinary collaboration between physicians and pediatric dentists for optimal patient care.