Mission of Hypotonia Center

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

The Johns Hopkins Center for Hypotonia is the only clinical and research center of its kind in the world.  We focus on identifying, supporting and treating patients with various conditions associated with hypotonia.  The rationale for collectively caring for these patients in a combined clinic is the substantial overlap of clinical symptoms that many patients with hypotonia share. These may include delay of cognitive and motor milestones, joint hyperlaxity or contractures, problems of daytime or nighttime breathing and various forms of heart defects.  After seeing many patients with hypotonia, we hope to have a deeper understanding of its various etiologies and the prognoses for individual presentations. At the same time, we ensure that the clinical approach and recommendations for treatment for the patient will be tailored to his/her individual needs.

Hypotonia can be a symptom of many different disorders.  Our center serves as coordinator of multidisciplinary services to evaluate and support patients and their families, in particular:

• Any hypotonia syndrome associated with or without global developmental delay
  
  
• Joint hypermobility associated with muscle hypotonia

• Arthrogryposis (joint contractures)

• Congenital disorders of glycosylation

• Mitochondrial encephalomyopathies

• Metabolic myopathies

• Recurrent rhabdomyolysis

• Muscular dystrophies

• Pompe Disease (including enzyme replacement therapy)

• Congenital myopathies

Our ultimate goal is to gain a deeper understanding of the natural course of hypotonia and various associated conditions.  Subsequently, these insights will be used to develop novel therapeutic strategies which will help the individual patient to achieve their maximum cognitive and physical performance.