Congenital neuromuscular disorders are rare, making clinical studies and recruitment of patients for clinical trials difficult. To facilitate research, we established a Japanese registry of congenital neuromuscular disorders. The registry included patients with congenital neuromuscular disorder whose clinical presentation was consistent with the known pathology, genetic diagnosis, or clinical diagnosis. Patients with dystrophinopathy, myotonic dystrophy, Fukuyama-type congenital muscular dystrophy, or spinal muscular atrophy were excluded because separate registries are available for these disorders.

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