U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary Motor Neuronopathy

MedGen UID:
775718
•Concept ID:
C3661519
•
Disease or Syndrome
Synonyms: Hereditary Motor Neuronopathies; Motor Neuronopathies, Hereditary; Motor Neuronopathy, Hereditary; Neuronopathies, Hereditary Motor; Neuronopathy, Hereditary Motor

Professional guidelines

PubMed

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
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
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

Recent clinical studies

Etiology

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K
J Med Genet 2020 Mar;57(3):178-186. Epub 2019 Sep 11 doi: 10.1136/jmedgenet-2019-106108. PMID: 31511340Free PMC Article
A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.
Akçimen F, Vural A, Durmuş H, Çakar A, Houlden H, Parman YG, Nazlı Başak A
J Hum Genet 2019 Nov;64(11):1141-1144. Epub 2019 Aug 17 doi: 10.1038/s10038-019-0652-y. PMID: 31420593
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
Pareyson D, Scaioli V, Laurà M
Neuromolecular Med 2006;8(1-2):3-22. doi: 10.1385/nmm:8:1-2:3. PMID: 16775364
A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L
Ann Neurol 2000 Dec;48(6):877-84. PMID: 11117544
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP
Brain 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612. PMID: 10908191

Diagnosis

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
de Fuenmayor-Fernández de la Hoz CP, Lupo V, Bermejo-Guerrero L, Martín-Jiménez P, Hernández-Laín A, Olivé M, Gallardo E, Esteban-Pérez J, Espinós C, Domínguez-González C
J Neurol 2024 Feb;271(2):986-994. Epub 2023 Oct 31 doi: 10.1007/s00415-023-12039-9. PMID: 37907725
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K
J Med Genet 2020 Mar;57(3):178-186. Epub 2019 Sep 11 doi: 10.1136/jmedgenet-2019-106108. PMID: 31511340Free PMC Article
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
Pareyson D, Scaioli V, Laurà M
Neuromolecular Med 2006;8(1-2):3-22. doi: 10.1385/nmm:8:1-2:3. PMID: 16775364
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, Hartung HP, Timmerman V
Brain 2002 Jun;125(Pt 6):1320-5. doi: 10.1093/brain/awf127. PMID: 12023320

Prognosis

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.
Sait H, Pandey M, Phadke SR
J Genet 2024;103 PMID: 39080983
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ, Nam DE, Choi YJ, Nam SH, Choi BO, Chung KW
Genes Genomics 2020 Jun;42(6):663-672. Epub 2020 Apr 20 doi: 10.1007/s13258-020-00933-9. PMID: 32314272
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
Pareyson D, Scaioli V, Laurà M
Neuromolecular Med 2006;8(1-2):3-22. doi: 10.1385/nmm:8:1-2:3. PMID: 16775364

Clinical prediction guides

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
Kamada M, Kawarai T, Miyamoto R, Kawakita R, Tojima Y, Montecchiani C, D'Onofrio L, Caltagirone C, Orlacchio A, Kaji R
Parkinsonism Relat Disord 2018 Jan;46:79-83. Epub 2017 Oct 21 doi: 10.1016/j.parkreldis.2017.10.012. PMID: 29107646
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Brusse E, Majoor-Krakauer D, de Graaf BM, Visser GH, Swagemakers S, Boon AJ, Oostra BA, Bertoli-Avella AM
Neurogenetics 2009 Oct;10(4):289-97. Epub 2009 Apr 24 doi: 10.1007/s10048-009-0193-1. PMID: 19396477Free PMC Article
A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L
Ann Neurol 2000 Dec;48(6):877-84. PMID: 11117544
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP
Brain 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612. PMID: 10908191

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...