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Participant 063

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Male, age 6, with developmental delay, difficulty swallowing (dysphagia), low muscle tone (hypotonia), and difficulty walking (progressive gait disturbance)

YouTube Video


Date of Report

May 08, 2018


After a premature and complicated birth, the participant spent 3 weeks in the NICU recovering from breathing and feeding difficulties as well as sepsis. Early on, the participant had some difficulty with fine motor skills and speech delay. He learned to walk at 17 months, but his knees would hyperextend when he would take steps (gait disturbance). This has become progressively worse over time. The participant currently has decreased/absent ankle and knee reflexes, significant fine motor delays, and requires ankle and foot orthoses (AFOs). In addition, the participant has low muscle tone (hypotonia), weak cartilage in the walls of his larynx (laryngomalacia) and trachea (tracheomalacia), experiences sleep disturbance, and has difficulty swallowing (dysphagia). He also has breathing issues (hypoventiliation and paradoxical breathing) for which he uses a BiPAP machine.

Symptoms / Signs
  • Global developmental delay
  • Low muscle tone (hypotonia)
  • Protruding shoulder blades (scapular winging)
  • Difficulty walking (gait disturbance)
  • Hyperextensibility of the knee
  • Hip flexor weakness
  • Decreased/absent ankle and knee reflexes
  • Incoordination
  • Difficulty swallowing (dysphagia)
  • Weak cartilage in walls of larynx and trachea (laryngomalacia, tracheomalacia)
  • Sleep disturbance
  • Large head size (macrocephaly) at birth
  • High forehead
  • Protruding forehead (frontal bossing)
  • Large ears (macrotia)
  • Recessed lower jaw (retrognathia)
  • Fluid filled cyst in spinal cord (syringomyelia)
  • Abnormality of cerebral spinal fluid (extra-axial cerebrospinal fluid)
  • Exaggerated inward curve of the spine (hyperlordosis)
  • Flow of urine from bladder to kidneys (vesicoureteral reflux)
  • Flat feet (pes planus)
  • Anxiety
  • Easy fatigability
  • Self-injurious behavior
  • Abnormal mitochondria morphology and number
Current Treatments
  • Clonazepam – anxiety
  • Erythromycin – slow motility
  • Guanfacine – attention difficulties
  • Melatonin – sleep disturbance
  • Miralax, senna syrup – constipation
  • Prevacid, G-tube feeding – dysphagia
  • Risperdal – irritability
  • Ubiquinol, super B complex – supplements
Prior Treatments
  • Amantadine HCl – movement issues
Considered treatments
Previously Considered Diagnoses
  • Hereditary ataxia
  • Metabolic condition
  • Microdeletion/duplication syndrome- normal karyotype and microarray
  • Mitochondrial condition
  • Singe gene condition- non-diagnostic exome sequencing
  • Spinal muscular atrophy
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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