background participants

Participant 141


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Female, age 3 with limited joint movement (arthrogryposis) and low muscle tone (hypotonia)

Date of Report

Aug 12, 2019

Description

The participant was found to have limited joint movement (arthrogryposis) prenatally. She has required surgery to restore more flexibility to some of her joints.  She currently has contractures at her shoulders, elbows and hips. She also has deviated fingers and toes, small thumbs, and rocker bottom feet (bilateral vertical talus).

The participant has been diagnosed with low muscle tone (hypotonia), developmental delays, feeding problems and abnormal hip development (dysplasia, subluxations) as well. In addition, she has short stature and some facial differences (hypertelorism, micrognathia, epicanthus).

The participant has been making developmental progress over time and is currently nonverbal.

Symptoms / Signs
  • Limited joint movement (arthrogryposis multiplex congenita)
  • Global developmental delay
  • Speech delay
  • Low muscle tone (generalized hypotonia)
  • Short stature
  • Brain abnormality (cerebral white matter hypoplasia)
  • Skin folds over the corners of the eyes (epicanthus) – may be related to Asian ancestry
  • Increased distance between eyes (hypertelorism)
  • Small jaw (micrognathia)
  • Aspiration – resolved
  • Rocker bottom feet (Bilateral vertical talus)
  • Reduced muscle collagen VI
Current Treatments
  • Gastrostomy tube – feeding difficulties
Prior Treatments
  • Surgery for contractures (bilateral quadriceps release)
Considered treatments
Previously Considered Diagnoses
  • Ullrich congenital muscular dystrophy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms. A change in the MYH8 gene has been associated with trismus-pseudocamptodactyly syndrome, also called arthrogryposis, distal, 7 (DA7) (Veugelers et al., 2004). However clinicians and researchers do not believe trismus-pseudocamptodactyly syndrome is the explanation for the participant’s presentation, therefore research is still underway.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal recessive
chr17:g.10297616; chr17:g.10318859
NM_002472
c.5116G>A; c.578G>A
p.E1706K; p.R193H
Contact

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