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Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

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 reduced penetrance,...
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Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
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Progeria syndrome: a case report.

Rajul Rastogi1, S M Chander Mohan

  • 1Yash Diagnostic Center, Yash Hospital and Research Center, Civil Lines, Kanth Road, Moradabad - 244 001, Uttar Pradesh, India. eesharastogi@gmail.com

Indian Journal of Orthopaedics
|October 14, 2009
PubMed
Summary
This summary is machine-generated.

Progeria, a rare genetic disorder causing premature aging and dwarfism, is presented in a case study. Radiological findings are highlighted to aid in diagnosing this sporadic autosomal recessive syndrome.

Keywords:
Acrogeriadwarfismprogeria

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Area of Science:

  • Pediatrics
  • Genetics
  • Radiology

Background:

  • Progeria is a rare genetic disorder characterized by premature aging and dwarfism.
  • It affects approximately one in several million births and is likely an autosomal recessive syndrome.
  • While clinical presentation is often typical, diagnostic confirmation relies on radiological and biochemical investigations.

Purpose of the Study:

  • To present a rare case of Progeria.
  • To illustrate the characteristic radiological features of Progeria.
  • To emphasize the role of imaging in diagnosing Progeria.

Main Methods:

  • Case report presentation.
  • Detailed radiological imaging analysis.
  • Clinical data review.

Main Results:

  • The case exhibits typical Progeria presentation.
  • Radiological findings are consistent with known Progeria manifestations.
  • The pictorial essay effectively showcases these features.

Conclusions:

  • Progeria is a rare condition with distinct clinical and radiological signs.
  • Radiological investigations are crucial for confirming the diagnosis of Progeria.
  • This case serves as an educational resource for identifying Progeria through imaging.