The development of novel treatments for spinal muscular atrophy (SMA) has highlighted the need for comprehensive care for individuals affected by this motor nerve condition. Our center recognizes the need for multispecialty collaboration in an era where the future for patients with SMA is radically changing.

We offer evaluation and treatment opportunities for pediatric and adult patients with spinal muscular atrophy. CHKD's SMA Care Center is directed by our specialist, Dr. Crystal Proud, who has subspecialty expertise and is board certified in neuromuscular medicine.

Considering Treatment with Spinraza or Zolgensma?

There are currently two FDA approved medications for the treatment of spinal muscular atrophy, Spinraza (nusinersen) and Zolgensma (onasemnogene abeparvovec-xioi). Dr. Proud will review the mechanism of action, potential benefits, possible adverse effects, and mechanism of administration, as well as required monitoring parameters.

Every patient with SMA is different, and may require different methods of administration or supportive care for their treatment.

If treatment is desired, the appropriate documentation and authorization requests will be initiated. Reassessments every four to six months in the SMA Care Center are required for patients receiving either treatment.

Infants with spinal muscular atrophy may require more frequent visits.

Dr. Proud shares more about SMA and avaialbe treatment options in the video below.  

Your Appointment: What to Expect

The following assessments may be performed at the clinical visit depending on the needs of the neuromuscular condition being evaluated:

  • Measurements and vital signs will be obtained (including weight – a wheelchair scale and hoyer lift scale are available in clinic)
  • Respiratory therapist evaluation, including spirometry testing – designed to evaluate the strength of the muscles around the lungs
  • Our physical medicine and rehabilitation physician will assess functional abilities and supportive needs
  • Physical therapist and occupational therapist may evaluate joints, perform timed testing and conduct standardized motor strength assessments, such as:
    • Hammersmith Infant Neurologic Examination
    • Infant Test of Neuromuscular Disorders
    • Revised upper-limb module
    • Hammersmith Functional Motor Scale for SMA Expanded
    • Handheld dynamometry

Educational liaisons and social workers facilitate navigating school and daily life as an individual with disabilities and nutritional challenges are addressed by our dietician. Our genetic counselor will meet to discuss the need for genetic testing of the patient, opportunities for testing of family members, and review reproductive considerations.

Finally, Dr. Proud will conclude the visit by reviewing the above assessments, performing a neuromuscular examination, and discussing the recommended plan of care.

Following Your Visit

You may be referred for the following services, available at CHKD:

Tests may include:

Our Services

Many of our neuromuscular patients require routine care with other subspecialties and our clinic will be able to facilitate consultations within CHKD including cardiology, pulmonology, sleep medicine, orthopedics/bone health, neuropsychology, neurodevelopmental neurology and pain/palliative medicine.

Request An Appointment

  • General Neurology: (757) 668-9920
  • Tanicia Johnson, clinical nurse: (757) 668-9979
  • Erika Paradiso, nurse coordinator: (757) 668-7732

Gene Therapy Treatment Offers Hope

Watch this video to learn more about a 3-month old patient at CHKD who was the first child in Virginia, and among the first in the country, to receive the gene therapy drug Zolgensma or read her amazing story here.