Abstract
Neuromuscular disorders (NMDs) of Childhood onset are a genetically heterogeneous group of diseases affecting the anterior horn cell, the peripheral nerve, the neuromuscular junction, or the muscle. For many decades, treatment of NMDs has been exclusively symptomatic. But this has changed fundamentally in recent years due to the development of new drugs attempting either to ameliorate secondary pathophysiologic consequences or to modify the underlying genetic defect itself. While the effects on the course of disease are still modest in some NMDs (e.g., Duchenne muscular dystrophy), new therapies have substantially prolonged life expectancy and improved motor function in others (e.g., spinal muscular atrophy and infantile onset Pompe disease). This review summarizes recently approved medicaments and provides an outlook for new therapies that are on the horizon in this field.
Highlights
Neuromuscular disorders (NMDs) include conditions affecting the anterior horn cell (e.g., Spinal muscular atrophy = SMA), the peripheral nerve (e.g., Charcot-Marie-Tooth disease = CMT), the neuromuscular junction (e.g., Congenital myasthenia), or the muscle itself (e.g., Duchenne muscular dystrophy = Duchenne Muscular Dystrophy (DMD))
Spinal muscular atrophies are characterized by premature degeneration of the second motor neuron. 5q-associated SMA is by far the most common form with an incidence of about one in 6,000 to 10,000 live births
Limb-Girdle Muscle Dystrophies (LGMDs) R3 (Alpha-Sarcoglycanopathy) Preclinical studies in α-sarcoglycan deficient mice treated with systemic AAV containing α-sarcoglycan using a muscle specific promoter showed histological improvement, correction of pseudohypertrophy as well as increase of global activity [78]
Summary
Neuromuscular disorders (NMDs) of Childhood onset are a genetically heterogeneous group of diseases affecting the anterior horn cell, the peripheral nerve, the neuromuscular junction, or the muscle. Treatment of NMDs has been exclusively symptomatic. This has changed fundamentally in recent years due to the development of new drugs attempting either to ameliorate secondary pathophysiologic consequences or to modify the underlying genetic defect itself. While the effects on the course of disease are still modest in some NMDs (e.g., Duchenne muscular dystrophy), new therapies have substantially prolonged life expectancy and improved motor function in others (e.g., spinal muscular atrophy and infantile onset Pompe disease). This review summarizes recently approved medicaments and provides an outlook for new therapies that are on the horizon in this field.
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