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Participant 064


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Male, age 10 with arthrogryposis multiplex congenita causing decreased flexibility of his joints, low muscle tone (muscle hypotonia), and low bone density (osteopenia)

Date of Report

May 09, 2018

Description

At birth, the participant had trouble feeding due to low muscle tone (muscle hypotonia) and difficulty swallowing (dysphagia), which required gastrostomy tube (G-tube) feeding until 3 months of age. While hospitalized as a newborn, a skeletal survey was performed, which revealed low bone density (osteopenia) and a bone fracture. An EMG was also performed, which suggested that the participant may have a denervating condition, such as a motor neuron disorder. Testing for spinal muscular atrophy was performed, but was negative. Given his contractures, the participant was diagnosed with arthrogryposis multiplex congenita.

Over time, the participant has undergone numerous studies to identify the cause of his condition. Three years ago, the participant’s twin brothers were born, and one showed similar symptoms. Both brothers currently have elbow contractures, mild wrist contractures with severe weakness, and severe hip contractures. The participant is wheelchair bound and his younger brother is able to sit independently, but is unable to crawl. Of note, their arthrogryposis is not considered typical since they also have significant weakness and low muscle tone (muscle hypotonia).

Despite these physical challenges, both boys are very bright, articulate, and interactive.

Symptoms / Signs
  • Decreased flexibility of the joints (arthrogryposis multiplex congenita)
  • Low muscle tone (muscle hypotonia)
  • Low bone density (osteopenia)
  • Difficulty walking
  • Difficulty swallowing (dysphagia)
  • Spine curvature (hyperlordosis)
  • Tissue bulge in abdomen (inguinal hernia)
  • Hip joint abnormality (hip dysplasia)
  • Undescended testes (bilateral cryptorchidism)
Current Treatments
  • Knee-ankle-foot orthotics
Prior Treatments
  • Gastrostomy tube (G-tube) feeding in infancy
  • Surgical repair for hip dysplasia, bilateral cryptorchidism, inguinal hernia
Considered treatments
Previously Considered Diagnoses
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Single gene condition (non-diagnostic exome sequencing)
  • Spinal muscular atrophy
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:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
FLG
Autosomal dominant (paternally inherited)
Chr1: 152280023
NM_002016.1
c.7339C>T
p.Arg2447Ter
Autosomal dominant (maternally inherited)
Chr9: 113449510
NM_005592.3
c.302G>A
p.Gly107Glu
Autosomal recessive (one variant identified)
Chr1: 43218209
NM_022356.3
c.1472A>G
p.Asn491Ser
Autosomal recessive
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Contact

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