Genetics Repository of Neurologic and Neuromuscular Disorders

Condition: Neurologic and neuromuscular disorders

Eligibility

Key Inclusion Criteria

Group 1:

  • Adults and children with evidence of a neurologic or neuromuscular disorder

Group 2: 

  • Adults (at least 18 years old) who are family members of individuals in group 1
  • No evidence of a neurologic disorder by history or examination

Group 3:

  • Unrelated healthy adults (at least 18 years old) who are used as a comparison group
  • No evidence of a neurologic disorder by history or examination

Key Exclusion Criteria

Group 1, 2 or 3:

  • Any active dermatologic disease
  • Any connective tissue disease including systemic lupus erythematous, Sjögren's syndrome, scleroderma or mixed connective tissue disease
  • Active skin infection at biopsy site

Full Study Name

Genetics Repository of Neurologic and Neuromuscular Disorders (IRB no. 28662) 

Summary

The purpose of this study is to establish a repository of blood/DNA samples to be used for future research studies examining the clinical and genetic features of various types of neurologic and neuromuscular disorders, including conditions that may not be genetically based. A repository is a collection of data and/or specimens that are stored with the intent of supporting future research, which will help contribute to the knowledge of both the diagnosis and possible treatment of these conditions. The repository will include samples from children and adults with neurologic and/or neuromuscular disorders, their family members and normal control subjects (healthy participants).

Principal Investigator

Mathew Burford, MD

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