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Participant 025


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Female, age 15 with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria)

Date of Report

Jun 08, 2017

Description

Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). She struggled with speech (expressive and receptive language delay) and did not walk until age 3.

At age 4, she started to have muscle weakness and spasms in her legs and arms (spastic paraparesis). She also began to have trouble with fine motor tasks and her movements and speech slowed. Her symptoms would get progressively worse as the day would go on. She was started on a trial of Sinemet, which helped relieve some of her symptoms. She does not have seizures.

Symptoms / Signs
  • Global developmental delay
  • Mild intellectual disability
  • Slurred and slow speech (dysarthria)
  • Weakness and stiffness in leg muscles (spastic paraparesis)
  • Uncontrollable muscle contractions (dystonia)
  • Abnormality of brain electrical activity (EEG abnormality)
  • Rigidity
  • Tremors, slow movement, and muscle stiffness (Parkinsonism)
  • No seizures
Current Treatments
  • Sinemet and Cogentin- Parkinsonism
  • Vitamin D3-  bone strength
  • Creatine- muscle strength
Prior Treatments
  • Botulin toxin injections- spastic paraparesis
Considered treatments
Previously Considered Diagnoses
  • Cerebral palsy
  • Dystonia
  • Hereditary spastic paraplegia
  • Mitochondrial disorder
  • Parkinson’s disease (juvenile onset)
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr16:56370711
NM_020988
c.662C>A
p.A221D
Contact

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