Rinsho Shinkeigaku (Clinical Neurology)

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Genetic counseling and predictive testing for hereditary neuromuscular diseases

Katsuya Nakamura, M.D., Ph.D.1j2j and Yoshiki Sekijima, M.D., Ph.D.2j

1) Center for Medical Genetics, Shinshu University Hospital
2) Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine

Recent progress in genetic analysis can provide a precision diagnosis for many hereditary neuromuscular diseases in daily practice. Moreover, disease-modifying therapies such as nucleic acid medicine for patients with several neuromuscular diseases (i.e., hereditary ATTR amyloidosis, spinal muscular atrophy, and Duchenne muscular dystrophy) have been approved in Japan. For all neurologists, knowledge and practical skills of genetic counseling, especially predictive testing, will increase in importance. To promote personalized medicine for patients with neuromuscular diseases and their families, it is necessary to develop of genetic counseling systems, including nurturing genetic professionals.
Full Text of this Article in Japanese PDF (1579K)

(CLINICA NEUROL, 61: 588|593, 2021)
key words: hereditary diseases, predictive testing, Huntington's disease, Hereditary ATTR amyloidosis, genetic counseling

(Received: 26-Feb-21)