Spinal Muscular Atrophy


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Includes:

  • 5q SMA (SMA I-IV)
  • distal SMA
  • SMARD

The CNDR collects the following information on SMA patients:

Diagnosis:

  • clinical profile
  • age of onset, symptom onset
  • age at diagnosis
  • family history
  • genetics results

Clinical features:

  • walking, sitting, best current motor function, and best lifetime motor function
  • scoliosis
  • upper extremity function
  • motor function test results
  • dysphagia
  • pulmonary function test

Interventions:

  • scoliosis surgery
  • non-invasive and invasive ventilation
  • airway interventions
  • feeding tube
  • SMA-specific treatment and discontinuation

Medical History:

  • Comorbidities
  • treatments/medications
  • procedures
  • hospitalizations

Electrophysiology and biomarkers:

  • compound muscle action potential

Clinical Trial participation                                 

Social data:

  • Living status
  • employment status
  • occupation
  • education
  • family status
  • income
  • population group
  • community services

For a more detailed list of the data items collected, please see the CNDR_SMA PDF.