May 09, 2018
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.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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