background participants

Participant 071

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Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 8, with hereditary spastic paraplegia type 35 caused by a change in the FA2H gene

Date of Report

Jun 01, 2018


Early in life, the participant began to show signs of motor delay. She sat and crawled at 10 months and walked at 16 months. She also had significant language delays, especially with expressive language. At age 4, she was only able to say “mom.” Around this time, she also started showing signs of developmental regression and became clumsy. A brain MRI showed abnormal signal changes in the white matter with a posterior periventricular predominance.

The participant can no longer walk independently and has lost other motor skills. She currently is wheel-chair dependent and requires assistance for daily activities. Some of her other symptoms include stiff and tight limbs (spasticity), underdeveloped hip joints (hip dysplasia), and involuntary muscle contractions (dystonia).

The participant’s 20-year-old brother has similar symptoms. He lost his fine and gross motor skills and showed progressively worse involuntary muscle contraction (dystonia) and muscle stiffness. Over time, he developed difficulty swallowing (dysphagia) and loss of bladder and bowel control (urinary and bowel incontinence). In addition, he uses a wheelchair due to his inability to walk and displays aggressive behavior, which has been treated with medication.

Symptoms / Signs

Shared symptoms:

  • Developmental regression
  • Involuntary muscle contractions (dystonia)
  • Bladder dysfunction (neurogenic bladder)
  • Motor delay
  • Disruption in ability to walk (gait disturbance)
  • Loss of bladder and bowel control (urinary and bowel incontinence)
  • Muscle stiffness (sister worse than brother)
  • Delayed speech and language development (both require communication devices)
  • White matter changes in the brain
  • Dental anomalies (sister is missing two lateral maxillary and mandibular central incisors; brother has two lateral maxillary incisors located behind his medial maxillary incisors and canines)
  • Outward turned eyes (exotropia)
  • Abnormality of foot reflex (upgoing Babinski reflex)

Sister only:

  • Fainting (syncope)
  • Inability to straighten knee and feet (flexion contracture)
  • Stiff and tight limbs (spasticity)
  • Underdeveloped hip joints (hip dysplasia)
  • Curved spine (scoliosis)
  • Feet turned inward

Brother only:

  • Global developmental delay
  • Intellectual disability
  • Aggressive behavior
  • Uncontrolled eye movements (end gaze nystagmus)
  • Damage to the nerve that connects the eyes to the brain (bilateral optic atrophy)
  • Difficulty swallowing (dysphagia)
  • Flat arch of the foot (pes valgus)
  • Feet contractures
  • Recurrent urinary tract infections
Current Treatments

Shared treatments:

  • Carbidopa- levodopa – abnormal movements
  • Coenzyme Q10
  • Miralax – constipation

Sister only:

  • Milk of Magnesia – constipation

Brother only:

  • Levocarnitine
  • Risperidone – aggressive behavior
  • Trihexyphenidyl – abnormal movements
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Ataxias
  • Fragile X syndrome
  • Metabolic condition
  • Mitochondrial disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive

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


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