Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe]

Launched by IRCCS EUGENIO MEDEA · Apr 19, 2024

Keywords

ClinConnect Summary

The clinical trial titled "Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation" aims to better understand how myotonic dystrophy affects children and young people. This condition can cause problems with muscle control and cognitive development, and the trial will collect important information about brain function and rehabilitation needs in those affected. Researchers want to see how the condition develops over time, especially for those with the congenital form, which shows signs from birth, compared to the juvenile form that starts between the ages of 1 and 10.

To be eligible for this trial, participants should be under 35 years old and have a genetic diagnosis of myotonic dystrophy. They need to give informed consent, meaning they understand what the study involves. Participants will undergo assessments, which may include brain scans, to help researchers evaluate the effectiveness of new treatments. This study is currently looking for participants, and it can provide valuable insights that could lead to better therapies for myotonic dystrophy in the future.

Gender

ALL

Eligibility criteria

• Inclusion criteria:
• • 1. genetically defined diagnosis of Steinert myotonic dystrophy
• • 2. age \<35 years
• • 3. reading and signing the informed consent. For the congenital form: presence of hypotonia and weakness at birth, for the juvenile form: onset between 1 and 10 years with normal pre-perinatal history.
• • Exclusion criteria
• • 1. other concomitant pathologies that completely prevent the execution of clinical assessments
• • 2. presence of devices and prostheses that prevent the execution of the MRI
• • 3. lack of family compliance. -