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Participant 010


complex neuromuscular condition

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Male, age 7 with a complex neuromuscular condition

Date of Report

Oct 28, 2016

Description

As a newborn, the patient would often choke after feeds. His chest and stomach also looked like a seesaw when he would try to breath (one would go up while the other would go down). At about 8 months old, he had to be air lifted to the hospital for severe breathing issues. He was found to have vocal cord paralysis, which required a tracheostomy and ventilator.

At 11 months, the patient had a gastronomy tube (G-tube) placed to help with feeding, which was later changed to a gastrojejunal tube (GJ tube). Around this same time, a brain MRI showed nonspecific white matter changes. At 2 years, the patient began to walk independently, but an EMG did show absent/reduced motor nerve responses.

During the course of his life, the patient has had multiple hospital stays for respiratory illnesses. Developmentally, he is in the average range and is able to walk independently.

Symptoms / Signs
  • Severe, stable motor polyneuropathy
  • Low muscle tone (hypotonia)
  • Dry eye
  • Eyes turn outward (exotropia)
  • Mild nearsightedness (myopia)
  • Vocal cord paralysis
  • Difficulty swallowing (oropharyngeal dysphagia)
  • Excessive saliva production (sialorrhea)
  • Excessive air swallowing (aerophagia)
  • Chronic respiratory failure
  • Collapsed lung (atelectasis)
  • Acid reflux disease (gastroesophageal reflux disease)
  • Gap between larynx and esophagus (laryngeal cleft)
Current Treatments
  • Tracheostomy- vocal cord paralysis
  • G-tube- feeding difficulties
Prior Treatments
  • Botox injection into vocal cord- vocal cord paralysis
Considered treatments
Previously Considered Diagnoses
  • Spinal muscular atrophy
  • Hereditary motor neuropathy
  • Riboflavin transporter disorder
  • Mitochondrial disorder
Other Photographs
Genetic Variants of Interest
Contact

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