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Microcephaly-complex motor and sensory axonal neuropathy syndrome

MedGen UID:
1637079
•Concept ID:
C4706585
•
Disease or Syndrome
Synonyms: Microcephalus, complex motor and sensory axonal neuropathy syndrome; Microcephaly, complex motor and sensory axonal neuropathy syndrome; microcephaly-complex motor and sensory axonal neuropathy syndrome
SNOMED CT: Microcephalus, complex motor and sensory axonal neuropathy syndrome (763798008); Microcephaly, complex motor and sensory axonal neuropathy syndrome (763798008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018507
Orphanet: ORPHA423894

Definition

An extremely rare subtype of hereditary motor and sensory neuropathy with characteristics of severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Microcephaly-complex motor and sensory axonal neuropathy syndrome

Professional guidelines

PubMed

Guillain-Barré syndrome: History, pathogenesis, treatment, and future directions.
Hughes RAC
Eur J Neurol 2024 Nov;31(11):e16346. Epub 2024 May 16 doi: 10.1111/ene.16346. PMID: 38752584Free PMC Article
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
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
Diagnosis and management of neuropathies associated with plasma cell dyscrasias.
Rosenbaum E, Marks D, Raza S
Hematol Oncol 2018 Feb;36(1):3-14. Epub 2017 Apr 10 doi: 10.1002/hon.2417. PMID: 28397326

Recent clinical studies

Etiology

Peripherin is a biomarker of axonal damage in peripheral nervous system disease.
Keddie S, Smyth D, Keh RYS, Chou MKL, Grant D, Surana S, Heslegrave A, Zetterberg H, Wieske L, Michael M, Eftimov F, Bellanti R, Rinaldi S, Hart MS, Petzold A, Lunn MP
Brain 2023 Nov 2;146(11):4562-4573. doi: 10.1093/brain/awad234. PMID: 37435933Free PMC Article
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.
Le Cann M, Bouhour F, Viala K, Simon L, Tard C, Rossi C, Morel G, Lagrange E, Magy L, Créange A, Michaud M, Franques J, Echaniz-Laguna A, Antoine JC, Baron M, Arnulf B, Puma A, Delmont E, Maisonobe T, Leblond V, Roos-Weil D
Blood 2020 Nov 19;136(21):2428-2436. doi: 10.1182/blood.2020007092. PMID: 32959046
Guillain-Barré syndrome, transverse myelitis and infectious diseases.
Rodríguez Y, Rojas M, Pacheco Y, Acosta-Ampudia Y, Ramírez-Santana C, Monsalve DM, Gershwin ME, Anaya JM
Cell Mol Immunol 2018 Jun;15(6):547-562. Epub 2018 Jan 29 doi: 10.1038/cmi.2017.142. PMID: 29375121Free PMC Article
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK
Acta Neuropathol 2013 Sep;126(3):307-28. Epub 2013 Jul 30 doi: 10.1007/s00401-013-1115-8. PMID: 23897027Free PMC Article
Inflammatory neuropathies.
Hughes RA
Baillieres Clin Neurol 1994 Apr;3(1):45-72. PMID: 7921591

Diagnosis

Peripherin is a biomarker of axonal damage in peripheral nervous system disease.
Keddie S, Smyth D, Keh RYS, Chou MKL, Grant D, Surana S, Heslegrave A, Zetterberg H, Wieske L, Michael M, Eftimov F, Bellanti R, Rinaldi S, Hart MS, Petzold A, Lunn MP
Brain 2023 Nov 2;146(11):4562-4573. doi: 10.1093/brain/awad234. PMID: 37435933Free PMC Article
Axonal variants of Guillain-Barré syndrome: an update.
Shang P, Zhu M, Wang Y, Zheng X, Wu X, Zhu J, Feng J, Zhang HL
J Neurol 2021 Jul;268(7):2402-2419. Epub 2020 Mar 5 doi: 10.1007/s00415-020-09742-2. PMID: 32140865
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
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
Guillain-Barré syndrome.
Arcila-Londono X, Lewis RA
Semin Neurol 2012 Jul;32(3):179-86. Epub 2012 Nov 1 doi: 10.1055/s-0032-1329196. PMID: 23117942
Guillain-Barré syndrome.
Hughes RA, Cornblath DR
Lancet 2005 Nov 5;366(9497):1653-66. doi: 10.1016/S0140-6736(05)67665-9. PMID: 16271648

Therapy

Guillain-Barré syndrome: History, pathogenesis, treatment, and future directions.
Hughes RAC
Eur J Neurol 2024 Nov;31(11):e16346. Epub 2024 May 16 doi: 10.1111/ene.16346. PMID: 38752584Free PMC Article
Axonal variants of Guillain-Barré syndrome: an update.
Shang P, Zhu M, Wang Y, Zheng X, Wu X, Zhu J, Feng J, Zhang HL
J Neurol 2021 Jul;268(7):2402-2419. Epub 2020 Mar 5 doi: 10.1007/s00415-020-09742-2. PMID: 32140865
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.
Le Cann M, Bouhour F, Viala K, Simon L, Tard C, Rossi C, Morel G, Lagrange E, Magy L, Créange A, Michaud M, Franques J, Echaniz-Laguna A, Antoine JC, Baron M, Arnulf B, Puma A, Delmont E, Maisonobe T, Leblond V, Roos-Weil D
Blood 2020 Nov 19;136(21):2428-2436. doi: 10.1182/blood.2020007092. PMID: 32959046
Guillain-Barré syndrome.
Hughes RA, Cornblath DR
Lancet 2005 Nov 5;366(9497):1653-66. doi: 10.1016/S0140-6736(05)67665-9. PMID: 16271648
Guillian Barré syndrome--recent advances.
Vedanarayanan VV, Chaudhry V
Indian J Pediatr 2000 Sep;67(9):635-46. doi: 10.1007/BF02762173. PMID: 11028115

Prognosis

Autoimmune peripheral neuropathies.
Bourque PR, Chardon JW, Massie R
Clin Chim Acta 2015 Sep 20;449:37-42. Epub 2015 Mar 4 doi: 10.1016/j.cca.2015.02.039. PMID: 25748038
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
Fulminant inflammatory neuropathy mimicking cerebral death.
Liik M, Puksa L, Lüüs SM, Haldre S, Taba P
BMJ Case Rep 2012 Jul 20;2012 doi: 10.1136/bcr-10-2011-4906. PMID: 22822111Free PMC Article
Guillain-Barré syndrome.
Hughes RA, Cornblath DR
Lancet 2005 Nov 5;366(9497):1653-66. doi: 10.1016/S0140-6736(05)67665-9. PMID: 16271648
Guillian Barré syndrome--recent advances.
Vedanarayanan VV, Chaudhry V
Indian J Pediatr 2000 Sep;67(9):635-46. doi: 10.1007/BF02762173. PMID: 11028115

Clinical prediction guides

Peripheral neuropathies associated with DNA repair disorders.
Maguina M, Kang PB, Tsai AC, Pacak CA
Muscle Nerve 2023 Feb;67(2):101-110. Epub 2022 Oct 3 doi: 10.1002/mus.27721. PMID: 36190439Free PMC Article
Clinical and Electrophysiological Factors Predicting Prolonged Recovery in Children with Guillain-Barré Syndrome.
Agarwal E, Bhagat A, Srivastava K, Thakore B, Jagtap S, Kalane U, Rajadhyaksha S
Indian J Pediatr 2022 May;89(5):452-458. Epub 2021 Jun 7 doi: 10.1007/s12098-021-03804-7. PMID: 34097234
Epidemiological and clinical aspects of Guillain-Barré syndrome and its variants.
Oliveira DRDCAB, Fernandez RNM, Grippe TC, Baião FS, Duarte RL, Fernandez DJ
Arq Neuropsiquiatr 2021 Jun;79(6):497-503. doi: 10.1590/0004-282X-ANP-2020-0314. PMID: 34320055Free PMC Article
Clinical features and real-world outcomes of Guillain-Barré syndrome in the Philippines.
I Espiritu A, Separa KJNJ, Milla FJC, Adiao KJB, Leochico CFD, Jamora RDG
Neurol Res 2021 Dec;43(12):995-1004. Epub 2021 Jul 6 doi: 10.1080/01616412.2021.1948750. PMID: 34229572
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.
Le Cann M, Bouhour F, Viala K, Simon L, Tard C, Rossi C, Morel G, Lagrange E, Magy L, Créange A, Michaud M, Franques J, Echaniz-Laguna A, Antoine JC, Baron M, Arnulf B, Puma A, Delmont E, Maisonobe T, Leblond V, Roos-Weil D
Blood 2020 Nov 19;136(21):2428-2436. doi: 10.1182/blood.2020007092. PMID: 32959046

Recent systematic reviews

Hereditary transthyretin-related amyloidosis.
Finsterer J, Iglseder S, Wanschitz J, Topakian R, Löscher WN, Grisold W
Acta Neurol Scand 2019 Feb;139(2):92-105. Epub 2018 Oct 23 doi: 10.1111/ane.13035. PMID: 30295933
Predictors of respiratory failure in patients with Guillain-Barré syndrome: a systematic review and meta-analysis.
Green C, Baker T, Subramaniam A
Med J Aust 2018 Mar 5;208(4):181-188. doi: 10.5694/mja17.00552. PMID: 29490222
Associations between tumor necrosis factor-α gene polymorphisms and the risk of Guillain-Barré syndrome and its subtypes: A systematic review and meta-analysis.
Liu J, Lian Z, Chen H, Shi Z, Feng H, Du Q, Zhang Q, Zhou H
J Neuroimmunol 2017 Dec 15;313:25-33. Epub 2017 Oct 7 doi: 10.1016/j.jneuroim.2017.10.003. PMID: 29153605
Treatment for Charcot-Marie-Tooth disease.
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

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