background participants

Participant 178


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Male, age 7, with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences

Date of Report

Apr 08, 2021

Description

The participant was born at 39 weeks gestation and was treated in the NICU for 6 days due to low oxygen levels (hypoxia) caused by significant nasal congestion and airway obstruction.

The participant’s motor delay was first noticed around 4-6 months old. At 8 months, he was noted to have low weight (3rd percentile) with normal height and head circumference. At 13 months, testing indicated possible muscle differences (myotonia). At 1 year old, he was found to have muscle weakness especially in the trunk.

At 3 years old he continued to have weakness, abnormal hand movements, and increased tone in the lower limbs (hypertonia). At that time, he was considered to be at around 12 months developmentally. He was mostly army crawling and was unable to walk on his own. Notably, the participant did not experience developmental regression or behavioral problems.

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Hand tremor
  • Brain abnormalities (thick corpus callosum, abnormality of periventricular white matter)
  • Facial differences (sparse and thin eyebrows, periorbital fullness, bulbous nose, anteverted nares, short nose, long philtrum)
  • Eye abnormalities (exotropia, unilateral ptosis)
  • Ear abnormalities (low-set, posteriorly rotated, abnormally folded helix)
  • Loose, not elastic skin (cutis laxa)
  • Joints move beyond normal range (joint hypermobility)
  • Increased muscle tone in lower limbs (hypertonia)
Current Treatments
Prior Treatments
  • Botox – hypertonia
Considered treatments
Previously Considered Diagnoses
  • Congenital disorders of glycosylation
  • Metabolic disorder
  • Microdeletion/duplication syndromes
  • Mitochondrial disorder
  • Muscular dystrophies
  • Myotonic dystrophy
  • Neurometabolic disorders
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
Unknown
chr20: g.25282919G>GA
NM_001042472.2
c.1092dupT
p.His365fs
Unknown
chr9: g.101980764C>T
NM_033087.3
c.703G>A
p.Glu235Lys
Contact

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