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Participant 078


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Male, age 2 with low muscle tone, muscle weakness, and chronic respiratory issues

Date of Report

Jun 21, 2018

Description

Around 5 months old, the participant was noticed to have low muscle tone (hypotonia), developmental delays, and difficulty growing (failure to thrive). He also had respiratory failure due in part to compression of his left mainstem bronchus by his aorta, which was corrected with surgery. During his first year of life, he had multiple and prolonged hospitalizations.

His low tone has been improving, but continues to be an issue. He began walking at 18 months old but has poor coordination and cannot walk up steps independently. He can now hold a pen and scribble and has average cognitive abilities. He has delays in his verbal skills.

Symptoms / Signs
  • Difficulty growing (failure to thrive)
  • Global developmental delay
  • Low muscle tone (muscular hypotonia)
  • General muscle weakness and myopathy
  • Increased muscle fatiguability
  • Type 1 muscle fiber atrophy
  • Difficulty swallowing (dysphagia)
  • Decreased bone density (osteopenia)
  • Aspiration
  • Bronchomalacia
  • Collapsed lung (pneumothorax and atelectasis)
  • Fluid in lung (pleural effusion)
  • Respiratory failure
  • Recurrent respiratory infections
  • Increased levels of carbon dioxide in the blood (hypercapnia)
  • Decreased levels of oxygen in the blood (hypoxemia)
  • Low thyroid hormone production (hypothyroidism)
  • Increased levels of ketone bodies in the tissue (ketosis)
  • Increased levels of lactate in the body (lactic acidosis)
  • Birthmark (hemangioma)
  • Round face
  • Eye fold (epicanthus)
  • Widely spaced eyes (hypertelorism)
  • Flat bridge of nose (depressed nasal bridge)
  • Limited tongue movement (ankyloglossia)
  • Curvature of the spine (thoracic kyphoscoliosis)
  • Walking (gait) imbalance
  • Poor coordination
Current Treatments
  • BiPaP – respiratory difficulty
  • Gastrostomy tube feeding – difficulty swallowing
Prior Treatments
  • Aortopexy surgery – bronchial compression
Considered treatments
Previously Considered Diagnoses
  • Congenital myopathies
  • Metabolic condition
  • Mitochondrial disorder
  • Muscular dystrophy
  • Myotonic dystrophy
  • Prader-Willi syndrome
Other Photographs
Genetic Variants of Interest
Contact

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