Kugelberg Welander Spinal Muscular Atrophy Medication

Updated: Jan 16, 2019
  • Author: Joyce L Oleszek, MD; Chief Editor: Stephen Kishner, MD, MHA  more...
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Medication Summary

Numerous treatment trials for spinal muscular atrophy (SMA) have been described or are currently underway. [25] Medications being studied for upregulation of SMN2 protein production or for increase of exon 7 inclusion include phenylbutyrate, valproic acid, suberoylanilide hydroxamic acid, and hydroxyurea. The neuroprotective medications being investigated, including gabapentin and riluzole, are thought to provide protection from oxidative stress. Albuterol has been studied for its trophic/anabolic effects. Exercise therapy in rats has shown modest improvement in survival and modest decrease in motor neuron loss. Treatment with stem cells is also an area undergoing further study.

A single study from the Russian literature in 1980 suggested that lithium may have a role in slowing the disease progression, but this has not been corroborated. Further studies are needed to investigate this. [26]

A study using thyrotropin-releasing hormone as a treatment for SMA types II and III in children showed promising results. More studies are warranted to further investigate this possible treatment. [27]

Merlini and colleagues performed a multicenter, randomized, controlled trial of gabapentin versus no treatment in 120 patients with SMA type II or III for 12 months. [28] A significant improvement in lower extremity, maximum, voluntary isometric contraction was seen.