Kugelberg Welander Spinal Muscular Atrophy Medication

  • Author: Joyce L Oleszek, MD; Chief Editor: Denise I Campagnolo, MD, MS   more...
 
Updated: Nov 23, 2011
 
 

Medication Summary

Numerous treatment trials for spinal muscular atrophy (SMA) have been described or are currently underway.[19] 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.[20]

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.[21]

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.[22] A significant improvement in lower extremity, maximum, voluntary isometric contraction was seen.

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Contributor Information and Disclosures
Author

Joyce L Oleszek, MD  Assistant Professor, Department of Physical Medicine and Rehabilitation, University of Colorado at Denver Health Sciences Center, The Children's Hospital of Denver

Joyce L Oleszek, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Coauthor(s)

Stephanie E Vallee, MS  Certified Genetic Counselor, Dartmouth-Hitchcock Medical Center, Children's Hospital at Dartmouth

Disclosure: Nothing to disclose.

Michael Dichiaro, MD  Pediatric Rehabilitation Medicine Fellow, Cincinnati Children's Hospital Medical Center

Michael Dichiaro, MD is a member of the following medical societies: American Academy of Cerebral Palsy and Developmental Medicine, American Academy of Physical Medicine and Rehabilitation, and Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Mary Louise Caire, MD  Consulting Staff, Department of Physical Medicine and Rehabilitation, Wise Regional Medical Center

Mary Louise Caire, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Stephen Kishner, MD, MHA  Professor of Clinical Medicine, Physical Medicine and Rehabilitation Residency Program Director, Louisiana State University School of Medicine in New Orleans

Stephen Kishner, MD, MHA is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation and American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Teresa L Massagli, MD  Professor of Rehabilitation Medicine and Pediatrics, University of Washington School of Medicine

Teresa L Massagli, MD is a member of the following medical societies: American Academy of Pediatrics, American Academy of Physical Medicine and Rehabilitation, and Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Kat Kolaski, MD  Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine

Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Kelly L Allen, MD  Medical Director, Medevals

Disclosure: Nothing to disclose.

Chief Editor

Denise I Campagnolo, MD, MS  Director of Multiple Sclerosis Clinical Research and Staff Physiatrist, Barrow Neurology Clinics, St Joseph's Hospital and Medical Center; Investigator for Barrow Neurology Clinics; Director, NARCOMS Project for Consortium of MS Centers

Denise I Campagnolo, MD, MS is a member of the following medical societies: Alpha Omega Alpha, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, Association of Academic Physiatrists, and Consortium of Multiple Sclerosis Centers

Disclosure: Teva Neuroscience Honoraria Speaking and teaching; Serono-Pfizer Honoraria Speaking and teaching; Genzyme Corporation Grant/research funds investigator; Biogen Idec Grant/research funds investigator; Genentech, Inc Grant/research funds investigator; Eli Lilly & Company Grant/research funds investigator; Novartis investigator; MSDx LLC Grant/research funds investigator; BioMS Technology Corp Grant/research funds investigator; Avanir Pharmaceuticals Grant/research funds investigator

References

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