Hypotonia Research at Johns Hopkins

Our Team Our Mission Make an Appointment Definition of Hypotonia Conditions Associated with Hypotonia Research View or Print Brochure

Clinical Database:

Johns Hopkins has established an extensive ongoing database.  All patients referred to the Johns Hopkins Center for Hypotonia are given a questionnaire to complete during their initial visit. All clinical data related to onset of symptoms, antecedent factors, laboratory tests, muscle biopsy results, radiologic characteristics and potential treatments received are gathered and entered into the database.  Patients are then followed over time and their progress is charted and recorded.  We are currently exploring the dataset to understand the natural course of the hypotonia in order to characterize it further based on similarities. We are also trying to understand clinical similarities as they point toward prognostic variables and validate our diagnostic work-up.  One potential goal of the database is to identify patients with similar clinical symptoms and progression in order to characterize potential new disease entities and novel therapeutic strategies.  The database also serves as a clinical repository for future clinical studies and trails. As always, patient confidentiality is always respected at Johns Hopkins, and no information linking patient names to clinical data is released. All data is kept in a secure database that is protected within the Johns Hopkins network.

Translational Research:

As the Director of the Johns Hopkins Center for Hypotonia, I am combining my clinical passion with the intellectual curiosity to ask fundamental scientific questions which will help to understand the pathophysiological basis of diseases and ultimately lead to design of novel therapeutic strategies. 

My laboratory is currently interested in three major research areas:

• Molecular mechanisms of muscle regeneration in various myopathic states
  
• Molecular mechanisms of hypotonia and muscle weakness in genetically characterized mouse models of various disease entities
  
• Molecular pathogenesis of cardiomyopathies associated with muscular dystrophy