background participants

Participant 111


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

Male, age 12 with rapid progression of muscle weakness, problems with coordination (ataxia), and difficulty speaking (dysarthria)

Date of Report

Mar 01, 2019

Description

The patient began experiencing muscle weakness and tiredness around 9 years old. He was found to have problems with coordination (ataxia), drooping eyelids (ptosis), and rapid, uncontrolled eye movements (nystagmus). A brain MRI showed moderate atrophy of his cerebellum. His symptoms have progressed quickly and he now requires the use of a wheelchair and 1:1 aide at school. He currently needs assistance with almost all activities of daily life.

Symptoms / Signs
  • Muscle weakness
  • Easily tired (easy fatigability)
  • Brain wasting seen on MRI (cerebellar atrophy)
  • Problems with coordination (ataxia)
  • Uncontrollable, rhythmic shaking (tremor, head and truncal titubation)
  • Difficulty speaking (dysarthria)
  • Migraine
  • EEG abnormality
  • Drooping eyelids (ptosis)
  • Uncontrolled rapid eye movements (nystagmus)
  • Teeth grinding (bruxism)
  • Lack of coordination of arms and legs (limb dysmetria)
  • Sleep apnea
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Hereditary ataxia syndrome
  • Metabolic condition
  • Mitochondrial disease
Other Photographs
Genetic Variants of Interest
Contact

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

Disclaimer

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.