background participants

Participant 092

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Female, age 6 with global developmental delay, severe motor impairment, involuntary muscle contractions (dystonia), and variants in the PAPSS1 gene

Date of Report

Nov 01, 2018


Early in life, the participant began to show signs of motor and developmental delay and started having absence seizures at 3 years old. Her motor development has been quite slow. She currently has significant muscle weakness, low muscle tone in her face and trunk (facial and axial hypotonia), high muscle tone and involuntary muscle contractions in her arms and legs (appendicular hypertonia and dystonia of extremities), and intermittent twisted neck (cervical torticollis). Now, at 6 years old, she walks with a gait trainer and does not roll or sit independently. She has significant speech delays, especially with expressive language. She uses a communication device and recently learned her first word, “Mama”.

Symptoms / Signs
  • Absence seizures
  • Abnormal brain activity (EEG abnormality)
  • Brain damage (abnormality of the cerebral white matter, cerebral and cerebellar volume loss)
  • Absent speech
  • Muscle weakness (severe generalized muscle weakness, tetraparesis)
  • Decreased muscle tone of face and trunk (facial and truncal hypotonia)
  • Increased muscle tone of arms and legs (lower and upper limb hypertonia)
  • Urinary retention
  • Motor delay (gross and fine motor delay)
  • Limb dystonia (involuntary muscle contractions)
  • Slow movements (bradykinesia)
  • Abnormal inner ear formation (abnormality of the internal auditory canal, hypoplasia of the inner ear)
  • Hearing loss (congenital right-sided severe sensorineural hearing loss)
  • Abnormal facial features (frontal bossing, prominent forehead, slight facial asymmetry, full cheeks, thick upper lip vermilion, anteverted nares, telecanthus, microdontia, widely spaced teeth, short nose, depressed nasal bridge, high anterior hairline, hyperplasia of midface, deeply set eyes, ptosis, intermittent exotropia)
  • Flattened base of skull (platybasia)
  • Indentation of the skin on the lower back (sacral dimple)
  • Vascular abnormalities (bilateral cutis marmorata of the lower extremities, prominent veins on trunk, developmental venous anomaly)
  • Heart structure abnormality (abnormal aortic morphology)
  • Twisted neck (intermittent cervical torticollis)
  • Skeletal abnormalities of the hip (flared iliac wings, flat acetabular roof, bilateral coxa valga)
  • Increased activated immune cells diagnosed and treated at age 3 (hemophagocytic lymphohistiocytosis)
Current Treatments
  • Depakote – seizures
  • Sinemet – movement and tone disorder
Prior Treatments
  • Etoposide and dexamethasone – hemophagocytic lymphohistiocytosis at age 3
Considered treatments
Previously Considered Diagnoses
  • Mitochondrial disorders
  • Neurotransmitter disorders
  • Organic aciduria
  • Purine and pyrimidine disorder
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:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive
chr4:g.108615007 & chr4:g.108615052T
c.331C>T & c.286A>G
p.Arg111Ter & p.Asn96Asp

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


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