Brief communication participation in social activities of six individuals with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P)
Keywords:
hereditary motor sensory neuropathy with proximal dominant involvement, HMSN-P, motor neuron disease, social activity, welfare service systemAbstract
The intractable neurological disease HMSN-P (hereditary motor and sensory neuropathy with proximal dominant involvement) includes four-limb paralysis and resembles amyotrophic lateral sclerosis (ALS). Although the long-term employment and social activities of individuals with severe neurological diseases have increased with improvements in medical/welfare services, those of individuals with HMSN-P have not been reported. We analyzed the long-term outcomes of six individuals with advanced-stage HMSN-P treated in 2018–2023; one exhibited proximal dominant quadriplegia in 2018 and was using an electric wheelchair with full assistance. He had continued to attend Sanshin concerts for 5 years and organized a music festival for the local handicapped population. The other patients similarly exhibited quadriplegia; three were using electric wheelchairs with full assistance, and two were using pushchairs. Four attended music festivals for the handicapped, and all have completed 20–35 years' continuous employment, attended public meetings about HMSN-P, and actively participated in the meetings' discussions.
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Fabiniak, R., Nooijen, C., Taniguchi, M. (2023). The impact of a powered standing wheelchair for a person with Okinawan neurogenic muscular atrophy. 38th International Seating Symposium. April 14. Available at: https://www.seatingsymposium.us. Accessed Oct. 1, 2024.
Fabrizi, G. M., Høyer, H., Taioli, F., Cavallaro, T., Hilmarsen, H. T., Squintani, G. M., ... & Braathen, G. J. (2020). Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene. Neuromuscular Disorders, 30(3), 227-231. https://doi.org/10.1016/j.nmd.2019.12.007 DOI: https://doi.org/10.1016/j.nmd.2019.12.007
Fujisaki, N., Suwazono, S., Suehara, M., Nakachi, R., Kido, M., Fujiwara, Y., ... & Nakagawa, M. (2018). The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients. Intractable & Rare Diseases Research, 7(1), 7-12. https://doi.org/10.5582/irdr.2017.01084 DOI: https://doi.org/10.5582/irdr.2017.01084
Funago, R., who has ALS, wins first term: 'A society without disabled or able-bodied people' – Applause and cheers surround wheelchair. Mainichi Shimbun (July 21, 2019) (in Japanese).
Ichikawa, S. Hunchpack. Bungeishinjyu Co. Tokyo 2023 (in Japanese).
Ishiura, H., Sako, W., Yoshida, M., Kawarai, T., Tanabe, O., Goto, J., ... & Tsuji, S. (2012). The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. The American Journal of Human Genetics, 91(2), 320-329. https://doi.org/10.1016/j.ajhg.2012.07.014 DOI: https://doi.org/10.1016/j.ajhg.2012.07.014
Nakagawa, M. (2009). Wide spectrum of hereditary motor sensory neuropathy (HMSN). Rinsho Shinkeigaku= Clinical Neurology, 49(11), 950-952. https://doi.org/10.5692/clinicalneurol.49.950 DOI: https://doi.org/10.5692/clinicalneurol.49.950
Shoji, H., Sakamoto, R., Saito, C., Akino, K., & Taniguchi, M. (2023). Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis. Intractable & Rare Diseases Research, 12(3), 198-201. https://doi.org/10.5582/irdr.2023.01051 DOI: https://doi.org/10.5582/irdr.2023.01051
Takashima, H., Nakagawa, M., Nakahara, K., Suehara, M., Matsuzaki, T., Higuchi, I., ... & Osame, M. (1997). A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Annals of neurology, 41(6), 771-780. https://doi.org/10.1002/ana.410410613 DOI: https://doi.org/10.1002/ana.410410613
Taniguchi, M., Shoji, H., Ide, M., Kumura, Y., & Kunisaki, K. (2021). Usefulness of upper-limb, single-joint-type hybrid assistive limb (HAL) for Okinawa-type neurogenic muscular atrophy (HMSN-P). A case report. 月刊脳神経内科, 94(4), 551-555.
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