Mar 18, 2019
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.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.