background participants

Participant 115


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Male, age 39 with involuntary muscle contractions (dystonia), difficulty speaking (dysphonia), and abnormal eye movements (saccadic smooth pursuit)

Date of Report

Mar 18, 2019

Description

Early in life the participant had typical development, but held a pen in a unique way and ran with his fingers and hands outstretched. At age 21, he began to speak in a whisper. This difficulty speaking (dysphonia) progressed for 1-2 years, but later stabilized. At age 29, the participant began to experience involuntary movements of the trunk and back and, at age 33, he began to have involuntary movements of the feet as well. The participant has abnormal eye movements (saccadic smooth pursuit), curvature of the spine (scoliosis, lumbar hyperlordosis), reduced sense of touch in his limbs (impaired distal tactile sensation), and difficulty swallowing (dysphagia). He also has rigidity and an unsteady gait.

The participant has a younger brother who has similar symptoms.

Symptoms / Signs
  • Abnormal movements (chorea, involuntary movements)
  • Involuntary muscle contraction (generalized dystonia, craniofacial dystonia, laryngeal dystonia)
  • Abnormal eye movements (saccadic smooth pursuit)
  • Difficulty speaking (dysphonia)
  • Difficulty swallowing (dysphagia)
  • Neck twisted to one side (torticollis)
  • Sideways curve of the spine (scoliosis)
  • Exaggerated inward curve of the spine (lumbar hyperlordosis)
  • Rigidity
  • Unsteady gait
  • Reduced sense of touch in limbs (impaired distal tactile sensation)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Friedreich ataxia
  • Metabolic condition
  • Oculopharyngeal muscular dystrophy
  • Spinal and bulbar muscular atrophy
  • Spinocerebellar ataxia
  • Torsion dystonia 6
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
X-linked
ChrX: 49022697
NM_024859
c.964C>G
p.Q322E
X-linked
ChrX: 49143355
NM_033215
c.2203A>G
p.S735G
Contact

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

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