Inclusion and Exclusion Criteria: Genetics Repository of Neurologic and Neuromuscular Disorders

 

Patients will be recruited from the Cedars-Sinai Neuromuscular/Neurologic Disease Clinic. Subjects will be from one of three groups:

Group 1: Consists of adults and children with a neurologic or neuromuscular disorder
Group 2: Consists of adults who are family members of individuals in group 1
Group 3: Consists of unrelated healthy adults who are used as a comparison group

 

Inclusion Criteria for Group 2 or Group 3 Subjects

  • Males or females of any race aged 18 or older
  • No evidence of a neurologic disorder by history or examination
  • Subjects must be able to provide informed consent
  • Absence of exclusion criteria

 

Exclusion Criteria for Group 2 or Group 3 Subjects

  • 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
  • Taking warfarin or other anti-coagulant except aspirin or an anti-platelet agent
  • History of bleeding disorder
  • Allergy to Lidocaine  
  • Pregnant subjects will not be eligible to undergo a lumbar puncture

 

Inclusion Criteria for Group 1 Subjects

  • Males or females of any age or race
  • Evidence of a neurologic or neuromuscular disorder
  • Subjects must be able to provide informed consent
  • Absence of exclusion criteria

 

Exclusion Criteria for Group 1 Subjects

  • 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
  • Taking warfarin or other anti-coagulant except aspirin or an anti-platelet agent
  • History of bleeding disorder
  • Allergy to Lidocaine
  • Pregnant subjects will not be eligible to undergo a lumbar puncture
  • Children, aged infant to 17, will only have collection of additional CSF for research purposes if they are undergoing a lumbar puncture for a clinical indication

 

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