Treatment Approaches for Neuromuscular Diseases: Medications, Therapy, and Emerging Options

Neuromuscular disorders (NMDs) encompass motor neuron diseases, neuropathies, NMJ disorders, myopathies. Management is multidisciplinary.

Symptomatic & Disease-Modifying Therapies

Category	Examples	Indications
Medications	Corticosteroids (DMD), pyridostigmine (MG), mexiletine (myotonia), risdiplam/nusinersen (SMA), eteplirsen (DMD exon 51)	Slow progression, improve strength, manage symptoms
Physical Therapy	Stretching, strengthening, aerobic conditioning, fall prevention	Maintain ROM, prevent contractures, optimize function
Occupational Therapy	ADL training, adaptive equipment, home modification	Maximize independence
Speech/Swallowing Therapy	Dysphagia management, communication devices	Prevent aspiration, maintain nutrition/communication
Assistive Devices	AFOs, wheelchairs, ventilatory support (BiPAP, cough assist)	Mobility, respiratory support
Surgery	Tendon releases, scoliosis fusion, thymectomy (MG)	Correct deformities, improve function

Emerging Therapies

• Gene Therapy: AAV-mediated gene replacement (e.g., onasemnogene abeparvovec for SMA).
• Antisense Oligonucleotides: Exon skipping (DMD), splicing modification.
• Stem Cell/Cell Therapy: Early-phase trials.

Care coordinated by neuromuscular neurologist, physiatrist, pulmonologist, genetic counselor.