I have had the great pleasure to serve as Guest Medical Editor for this issue of Practical Neurology, which reflects that The Future Is Now.1 The content of this issue is dear to my heart as several nationally and internationally recognized experts provide an update on changing management of neuromuscular diseases. I would like to thank the authors for sharing their expertise with the readers.
Neuromuscular disorders represent a spectrum of acquired and inherited conditions that affect cell bodies of the anterior horn and dorsal root ganglia, peripheral nerves, neuromuscular junctions, or muscles. These disorders often lead to decreased functional capacity and increased social isolation. The progressive neuromuscular conditions require a much higher level of long-term care compared with other health conditions. This is associated with significant burden and decreased quality of life for the patients and their caregivers.
Evidence-based guidelines and consensus statements for standard of care for various neuromuscular disorders have been published over the last 10 to 15 years. Comprehensive multidisciplinary supportive care provided to patients with neuromuscular conditions improves function as well as quality and expectancy of life. We finally start to see the light at the end of the tunnel because, after decades of research, cures for some of the neuromuscular disorders have been approved by FDA in the last several years.
We begin with Duchenne Muscular Dystrophy, an excellent overview by Dr. Zaidman of the current and possibly forthcoming treatments. Dr. Zaidman provides comparison between 2 corticosteroids: prednisone and deflazacort. He also includes information on genetic modulators and gene therapy for DMD advancing in clinical trials and a practical summary of monitoring and treatment. Dr. Cauchi next discusses clinical presentation and diagnostic work-up of late-onset Pompe Disease. He also provides summary of treatment options, available and in development, for this metabolic myopathy.
Shifting to imaging, Drs. Nicolau and Naddaf share their experience on practical use of Muscle MRI for Neuromuscular Disorders, including patterns of lower-limb muscle involvement in selected inherited myopathies.
Drs. Mayberry, Gable, and Hobson-Webb then provide a detailed review of genetic subtypes, clinical presentation, and diagnostic studies for Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP). Because gene modulation therapies and oral medications are now available to patients affected by this disorder, early detection is crucial in order to slow down disease progression. The next article by Drs. Gandhi Mehta, Baute Penry and Bonkovsky focuses on Porphyric Neuropathy. They share their expertise on attack prevention as well as acute attack treatments. They also discuss investigational treatments for acute hepatic porphyrias.
Drs. Baute Penry and Gandhi Mehta also provide an article that outlines Myasthenia Gravis Treatments, including rituximab, eculizumab, and subcutaneous immunoglobulin. Additionally, the authors provide an excellent overview of emerging therapeutic options for this disabling autoimmune neuromuscular junction disorder.
The next article by Drs. Gillis and Cartwright provides a practical and clinically relevant overview of disease-modifying and symptom-reducing treatments for Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig disease. This article also includes information on investigational disease-modifying options for ALS.
Dr. Castro completes the issue with comprehensive review of 2 FDA-approved treatments available for Spinal Muscular Atrophy. She provides detailed information on clinical trials pivotal to demonstrating efficacy for both medications.
As this issue of Practical Neurology is published, the neuromuscular community is watching closely because the FDA is set to make decisions on approval of risdiplam and viltolarsen in the third quarter of 2020. “Like it or not, we live in interesting times.2” New approved treatments for neuromuscular disorders will likely change the natural history of these diseases. However, novel medications will also likely pose new challenges for multidisciplinary care and rehabilitation for people with neuromuscular disorders.
1 Burton B. The Future Is Now. Documentary film starring Dwight Weist. Directed by Larry O’Reilly. 1955.
2.Senator Robert F. Kennedy’s Day of Affirmation Address. June 6, 1966.