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Proximal Hereditary Motor Neuropathy Type I

MedGen UID:
21913
Concept ID:
C0043116
Disease or Syndrome
Synonym: HMN (Hereditary Motor Neuropathy) Proximal Type I

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProximal Hereditary Motor Neuropathy Type I
Follow this link to review classifications for Proximal Hereditary Motor Neuropathy Type I in Orphanet.

Professional guidelines

PubMed

Ribero VA, Daigl M, Martí Y, Gorni K, Evans R, Scott DA, Mahajan A, Abrams KR, Hawkins N
J Comp Eff Res 2022 Apr;11(5):347-370. Epub 2022 Jan 18 doi: 10.2217/cer-2021-0216. PMID: 35040693
Butterfield RJ
Semin Pediatr Neurol 2021 Jul;38:100899. Epub 2021 May 29 doi: 10.1016/j.spen.2021.100899. PMID: 34183144Free PMC Article
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580

Recent clinical studies

Etiology

Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Coratti G, Cutrona C, Pera MC, Bovis F, Ponzano M, Chieppa F, Antonaci L, Sansone V, Finkel R, Pane M, Mercuri E
Orphanet J Rare Dis 2021 Oct 13;16(1):430. doi: 10.1186/s13023-021-02065-z. PMID: 34645478Free PMC Article
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group
N Engl J Med 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. PMID: 29091570
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK
N Engl J Med 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198. PMID: 29091557

Diagnosis

Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580
Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators
Ann Neurol 2017 Dec;82(6):883-891. Epub 2017 Dec 8 doi: 10.1002/ana.25101. PMID: 29149772Free PMC Article
Huang YL, Chen CJ
Neuroimaging Clin N Am 2011 Nov;21(4):939-50, ix-x. doi: 10.1016/j.nic.2011.07.009. PMID: 22032508
Lunn MR, Wang CH
Lancet 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. PMID: 18572081

Therapy

Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR
Lancet Neurol 2021 Apr;20(4):284-293. Epub 2021 Mar 17 doi: 10.1016/S1474-4422(21)00001-6. PMID: 33743238
Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group
N Engl J Med 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504. PMID: 29443664
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group
N Engl J Med 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. PMID: 29091570
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK
N Engl J Med 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198. PMID: 29091557
Lunn MR, Wang CH
Lancet 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. PMID: 18572081

Prognosis

Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR
Lancet Neurol 2021 Apr;20(4):284-293. Epub 2021 Mar 17 doi: 10.1016/S1474-4422(21)00001-6. PMID: 33743238
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators
Ann Neurol 2017 Dec;82(6):883-891. Epub 2017 Dec 8 doi: 10.1002/ana.25101. PMID: 29149772Free PMC Article
Huang YL, Chen CJ
Neuroimaging Clin N Am 2011 Nov;21(4):939-50, ix-x. doi: 10.1016/j.nic.2011.07.009. PMID: 22032508

Clinical prediction guides

Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Coratti G, Cutrona C, Pera MC, Bovis F, Ponzano M, Chieppa F, Antonaci L, Sansone V, Finkel R, Pane M, Mercuri E
Orphanet J Rare Dis 2021 Oct 13;16(1):430. doi: 10.1186/s13023-021-02065-z. PMID: 34645478Free PMC Article
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK
N Engl J Med 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198. PMID: 29091557
Huang YL, Chen CJ
Neuroimaging Clin N Am 2011 Nov;21(4):939-50, ix-x. doi: 10.1016/j.nic.2011.07.009. PMID: 22032508

Recent systematic reviews

Pascual-Morena C, Martínez-Vizcaíno V, Cavero-Redondo I, Martínez-García I, Moreno-Herráiz N, Álvarez-Bueno C, Saz-Lara A
Pharmacotherapy 2024 Jan;44(1):97-105. Epub 2023 Aug 21 doi: 10.1002/phar.2866. PMID: 37574770
Pascual-Morena C, Cavero-Redondo I, Lucerón-Lucas-Torres M, Martínez-García I, Rodríguez-Gutiérrez E, Martínez-Vizcaíno V
Hum Gene Ther 2023 Feb;34(3-4):129-138. doi: 10.1089/hum.2022.161. PMID: 36136906
Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Ribero VA, Daigl M, Martí Y, Gorni K, Evans R, Scott DA, Mahajan A, Abrams KR, Hawkins N
J Comp Eff Res 2022 Apr;11(5):347-370. Epub 2022 Jan 18 doi: 10.2217/cer-2021-0216. PMID: 35040693
Bartels B, Montes J, van der Pol WL, de Groot JF
Cochrane Database Syst Rev 2019 Mar 1;3(3):CD012120. doi: 10.1002/14651858.CD012120.pub2. PMID: 30821348Free PMC Article

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