background participants

Participant 059

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Male, age 5 with developmental delay and regression, seizures, and difficulty controlling voluntary movements (ataxia)

Date of Report

Apr 03, 2018


The participant’s parents first became concerned with his development when he was 6 months old and not yet rolling. He eventually did roll over at 8 months and was walking at 26 months. He began babbling at 14 months, but is currently nonverbal.

At 11 months, he started having seizures. He has tried various seizure medications, but they have not been able to control his seizures completely.

Around age 2 he started having right hand tremors and arm weakness, and his coordination began to regress. He lost the ability to feed himself with utensils, walk, and maintain head control. He started to drool and act lethargic, but it is unclear if this is due his underlying condition or the higher dose of seizure medication.

When he was 3 years old, he had a rash and was treated with steroids. While on steroids, he regained some of his lost motor skills. He is currently on steroids and having great improvement with motor skills. Every time he is weaned off of steroids, his functioning regresses.

Symptoms / Signs
  • Global developmental delay
  • Developmental regression
  • Lethargy
  • Seizures (generalized seizures, focal myoclonic seizures)
  • Inability to walk
  • Difficulty controlling voluntary movements (ataxia)
  • Muscle weakness
  • Decreased muscle tone in the trunk (central hypotonia)
  • Muscle contractions (spasticity)
  • Lack of coordinated movement (dysmetria)
  • Difficulty holding posture and balance (postural instability)
  • Immunodeficiency
  • Hypothermia
  • Eczema
  • Soft, doughy skin
  • Sparse hair
  • Red birthmark (hemangioma)
  • Reddening of skin (erythema)
  • Poor head control
  • Excessive tears (lacrimal duct stenosis)
  • Visual impairment
  • Astigmatism
  • Far sighted (myopia)
  • Dropping eyelids (congenital bilateral ptosis)
  • Cupped ear
  • Protruding ear
  • Drooling
  • Hand tremor
  • Tapered finger
  • Single crease on palm of hand (single transverse palmar crease)
  • Asthma
  • Short stature
  • Low bone density (osteopenia)
  • Thigh bone abnormality (proximal and distal femoral metaphyseal abnormality)
  • Shin bone abnormality (abnormality of the tibial metaphysis)
  • Toes curled in due to reflex (Babinski sign)
  • Rapid flexing of the foot (ankle clonus)
Current Treatments
  • Diazepam, Onfi- seizures
  • Methotrexate
  • Steroids- motor development
Prior Treatments
  • Clonazepam, Keppra, Topiramate, Trileptal, Qudexy, valproic acid– seizures
Considered treatments
Previously Considered Diagnoses
  • Coenzyme Q10 deficiency
  • Galactosialidosis
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Myotonic dystrophy type 1
  • Single gene disorder (exome sequencing non-diagnostic)
  • Smith-Magenis syndrome
Other Photographs
Genetic Variants of Interest

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


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