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Demyelinating hereditary motor and sensory neuropathy

MedGen UID:
1843348
Concept ID:
C5680106
Disease or Syndrome
Synonyms: demyelinating hereditary motor and sensory neuropathy; Demyelinating HMSN; demyelinating HMSN
 
Monarch Initiative: MONDO:0018776
Orphanet: ORPHA476116

Professional guidelines

PubMed

Pisciotta C, Pareyson D
Neuromuscul Disord 2023 Aug;33(8):627-635. Epub 2023 Jul 4 doi: 10.1016/j.nmd.2023.07.001. PMID: 37455204
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article

Recent clinical studies

Etiology

McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075Free PMC Article
Siao P, Kaku M
Semin Neurol 2019 Oct;39(5):519-530. Epub 2019 Oct 22 doi: 10.1055/s-0039-1694747. PMID: 31639835
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Barreto LC, Oliveira FS, Nunes PS, de França Costa IM, Garcez CA, Goes GM, Neves EL, de Souza Siqueira Quintans J, de Souza Araújo AA
Neuroepidemiology 2016;46(3):157-65. Epub 2016 Feb 6 doi: 10.1159/000443706. PMID: 26849231
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739

Diagnosis

Rossor AM, Reilly MM
Acta Neurol Scand 2022 Oct;146(4):325-331. Epub 2022 May 25 doi: 10.1111/ane.13650. PMID: 35611606Free PMC Article
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
Siao P, Kaku M
Semin Neurol 2019 Oct;39(5):519-530. Epub 2019 Oct 22 doi: 10.1055/s-0039-1694747. PMID: 31639835
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

Therapy

Pisciotta C, Pareyson D
Neuromuscul Disord 2023 Aug;33(8):627-635. Epub 2023 Jul 4 doi: 10.1016/j.nmd.2023.07.001. PMID: 37455204
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM
J Neurol Sci 2014 Dec 15;347(1-2):14-22. Epub 2014 Oct 16 doi: 10.1016/j.jns.2014.10.013. PMID: 25454638
Young P, De Jonghe P, Stögbauer F, Butterfass-Bahloul T
Cochrane Database Syst Rev 2008 Jan 23;2008(1):CD006052. doi: 10.1002/14651858.CD006052.pub2. PMID: 18254090Free PMC Article
Shumak KH, Rock GA
N Engl J Med 1984 Mar 22;310(12):762-71. doi: 10.1056/NEJM198403223101206. PMID: 6199669

Prognosis

Rossor AM, Reilly MM
Acta Neurol Scand 2022 Oct;146(4):325-331. Epub 2022 May 25 doi: 10.1111/ane.13650. PMID: 35611606Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Verschueren A
Rev Neurol (Paris) 2017 May;173(5):320-325. Epub 2017 Apr 20 doi: 10.1016/j.neurol.2017.03.018. PMID: 28434507
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Clinical prediction guides

Van Lent J, Vendredy L, Adriaenssens E, Da Silva Authier T, Asselbergh B, Kaji M, Weckhuysen S, Van Den Bosch L, Baets J, Timmerman V
Brain 2023 Jul 3;146(7):2885-2896. doi: 10.1093/brain/awac475. PMID: 36511878Free PMC Article
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R
Brain 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. PMID: 35148379Free PMC Article
Young P, De Jonghe P, Stögbauer F, Butterfass-Bahloul T
Cochrane Database Syst Rev 2008 Jan 23;2008(1):CD006052. doi: 10.1002/14651858.CD006052.pub2. PMID: 18254090Free PMC Article
McDonald CM
Phys Med Rehabil Clin N Am 2001 May;12(2):473-90. PMID: 11345019
Moser HW, Bergin A, Cornblath D
Biochem Cell Biol 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. PMID: 1724376

Recent systematic reviews

Giannoccaro MP, Matteo E, Bartiromo F, Tonon C, Santorelli FM, Liguori R, Rizzo G
Neurol Sci 2022 Sep;43(9):5501-5511. Epub 2022 May 21 doi: 10.1007/s10072-022-06145-1. PMID: 35595875
Yalcouyé A, Esoh K, Guida L, Wonkam A
J Peripher Nerv Syst 2022 Jun;27(2):100-112. Epub 2022 Apr 5 doi: 10.1111/jns.12489. PMID: 35383421Free PMC Article
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A
J Neurol 2017 Aug;264(8):1655-1677. Epub 2017 Mar 31 doi: 10.1007/s00415-017-8474-3. PMID: 28364294
Barreto LC, Oliveira FS, Nunes PS, de França Costa IM, Garcez CA, Goes GM, Neves EL, de Souza Siqueira Quintans J, de Souza Araújo AA
Neuroepidemiology 2016;46(3):157-65. Epub 2016 Feb 6 doi: 10.1159/000443706. PMID: 26849231
Young P, De Jonghe P, Stögbauer F, Butterfass-Bahloul T
Cochrane Database Syst Rev 2008 Jan 23;2008(1):CD006052. doi: 10.1002/14651858.CD006052.pub2. PMID: 18254090Free PMC Article

Supplemental Content

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