Rinsho Shinkeigaku
Online ISSN : 1882-0654
Print ISSN : 0009-918X
ISSN-L : 0009-918X

This article has now been updated. Please use the final version.

Genetic counseling and predictive testing for hereditary neuromuscular diseases
Katsuya NakamuraYoshiki Sekijima
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JOURNAL FREE ACCESS Advance online publication

Article ID: cn-001608

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Abstract

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.

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© 2021 Societas Neurologica Japonica
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