Table 8.

Supportive Treatment of Manifestations in Individuals with Spinal Muscular Atrophy

Manifestation/
Concern		TreatmentConsiderations/Other
Bulbar dysfunction
leading to poor
weight gain 		Placement of gastrostomy tube & nutritional supplementation
  • Most individuals w/SMA I have a gastrostomy tube by age 12 mos. 1
  • Low threshold for clinical feeding evaluation &/or radiographic swallowing study if clinical signs or symptoms of dysphagia &/or bulbar dysfunction
Obesity Regular nutritional evaluationsFor nonambulatory individuals w/SMA II & III
Gastroesophageal
reflux disease 		Standard treatment
Bowel
dysfunction 		Stool softeners, prokinetics, osmotic agents, or laxatives as neededFor constipation
Respiratory insufficiency/
failure options 3, 4 		Palliative care &/or no respiratory supportMay be an option depending on family preference 2
Airway clearance techniques & secretion management 5
  • Incl mechanical in-exsufflator in conjunction w/suctioning & chest physiotherapy, particularly during acute illness
  • Use of mechanical in-exsufflation in treatment of children w/neuromuscular diseases (incl those w/SMA) appears to reduce pulmonary complications.
Noninvasive ventilation, 5 such as BiPAP
  • For hypoventilation as demonstrated by ↓ oxygen saturation by pulse oximetry or by obstructive sleep apnea 6
  • Has been shown to improve sleep breathing parameters in those w/SMA I & II 7
  • BiPAP may improve chest wall & lung development, which may reduce lung infections & pulmonary comorbidity.
Tracheotomy w/permanent mechanical ventilationEthical questions re use of invasive ventilation in severely affected infants must be addressed. 8
Progressive
scoliosis 		Standard surgical intervention per orthopedist
  • Use of spinal orthosis for curvatures >20° prior to surgical intervention is common. 9
  • Important consideration in spinal surgery: leave a window for possibility of intrathecal administration of future treatments. 10
Consider vertical expandable prosthetic titanium rib (VEPTR). 11For severe scoliosis
Consider magnetically controlled growing rods (MGR).
  • For gradual outpatient distractions controlled by an external remote device 12
  • May ↓ need for repeated surgery 13
Hip dislocation Consider surgery for those who have pain.No surgery for those who are asymptomatic 14
Metabolic acidosis
during intercurrent
illness 		Supportive care w/early intravenous fluids & glucose
Family/
Community 		Ensure appropriate social work involvement to connect families w/local resources, respite, & support.Ongoing assessment of need for palliative care involvement &/or home nursing
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
1.

In those who receive supportive care only [Finkel et al 2014]

2.

See Table 7 for targeted treatment options that may improve lung function in affected individuals.

3.

Options should be discussed with parents / care providers before respiratory failure occurs.

4.

The type of respiratory support is dependent on the individual's respiratory status, quality-of-life goals, and access to equipment.

5.

Noninvasive pulmonary intervention should be incorporated into the management of all types of SMA.

6.
7.
8.
9.

There is insufficient evidence that spinal orthotics alter scoliosis in SMA.

10.
11.

Chandran and colleagues [2011] described the use of VEPTR in 11 children with SMA types I and II who were followed for an average of 43 months after the initial surgery. The average age at time of surgery was six years. No surgical complications were identified. Medical complications were seen in two affected individuals: postoperative pneumonia and anemia.

12.

A small case series of individuals with neuromuscular disorders (2 of whom had SMA) evaluated MGR and pulmonary function. Affected individuals showed an improvement in forced vital capacity and FEV1 (forced expired volume in 1 second) postoperatively with spinal deformity correction, with very few complications [Yoon et al 2014].

13.
14.

From: Spinal Muscular Atrophy

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