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Related Experiment Video

Updated: May 3, 2026

The Neuromuscular Junction: Measuring Synapse Size, Fragmentation and Changes in Synaptic Protein Density Using Confocal Fluorescence Microscopy
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Amyoplasia revisited.

Judith G Hall1, Kimberly A Aldinger, Kimi I Tanaka

  • 1Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, Canada.

American Journal of Medical Genetics. Part A
|January 25, 2014
PubMed
Summary
This summary is machine-generated.

Amyoplasia, a common form of arthrogryposis, presents with characteristic limb contractures and muscle replacement. This sporadic condition often involves multiple limbs and is associated with other congenital anomalies.

Keywords:
Amyoplasiaarms onlyarthrogryposisbowel atresiaclub handsclubfeetdigit lossdislocated hipsgastroschisishemangiomahyperextensionlegs onlymonozygotic twinsmultiple congenital contracturespregnancy complicationprenatal diagnosistwinsvascular compromise

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Orthopedics

Background:

  • Amyoplasia is the most common type of arthrogryposis, characterized by multiple congenital contractures.
  • It is diagnosed clinically, requiring careful consideration due to implications for recurrence, natural history, and associated anomalies.

Purpose of the Study:

  • To review and characterize the clinical presentation, subtypes, and associated anomalies of Amyoplasia.
  • To analyze the frequency of different subtypes and associated conditions in a large cohort of affected individuals.

Main Methods:

  • Review of over 600 published reports and 2,500 individual records.
  • Identification and categorization of 560 individuals with Amyoplasia based on limb involvement and associated anomalies.

Main Results:

  • Characteristic limb positions include extended elbows and equinovarus feet; symmetric involvement is common.
  • Identified subtypes: four-limb (55.9%), severe (7.3%), three-limb (4.8%), upper limb only (16.8%), and lower limb only (15.5%).
  • Increased discordant monozygotic twinning (6.6%) and various anomalies attributed to vascular compromise (e.g., gastrointestinal, digit, trunk muscle defects, constriction rings, fractures).

Conclusions:

  • Amyoplasia is a sporadic condition with diverse presentations and associated anomalies, often linked to vascular compromise.
  • Novel pathogenetic mechanisms for congenital anomalies in Amyoplasia require further investigation.
  • Prenatal diagnosis rates remain low despite ultrasound advancements.