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Paucity of anterior horn motor neurons

MedGen UID:
Concept ID:
HPO: HP:0007277

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Paucity of anterior horn motor neurons

Conditions with this feature

Lethal congenital contracture syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); LCCS9 (616503), caused by mutation in the ADGRG6 gene (612243); LCCS10 (617022), caused by mutation in the NEK9 gene (609798); and LCCS11 (617194), caused by mutation in the GLDN gene (608603).
Lethal arthrogryposis-anterior horn cell disease syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). Distinction from Lethal Congenital Contracture Syndrome 1 Biallelic mutation in the GLE1 gene can also cause LCCS1, which is lethal in utero. However, distinguishing between LCCS1 and CAAHD is controversial. Smith et al. (2017) suggested that differentiating between the 2 disorders has limited utility, and that they may represent a genotype/phenotype correlation rather than 2 different disease entities. In contrast, Said et al. (2017) concluded that LCCS1 represents a distinct clinical entity in which all affected individuals die prenatally and exhibit no fetal movements. Vuopala et al. (1995) differentiated CAAHD from LCCS1, noting that both are prevalent in Finland. LCCS1 is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. In LCCS1, the spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with CAAHD survive longer than those with LCCS1, and when present, hydrops and intrauterine growth retardation are mild. The macroscopic findings of the central nervous system and skeletal muscles are closer to normal, although microscopic analysis also shows degeneration of anterior horn cells. In addition, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS1.

Recent clinical studies


Ertekin C, Sarica Y, Uçkardeşler L
Electroencephalogr Clin Neurophysiol 1983 Jan;55(1):24-33. doi: 10.1016/0013-4694(83)90143-8. PMID: 6185299


Choudhary A, Sharma S, Sankhyan N, Gulati S, Kalra V, Banerjee B, Kumar A
J Child Neurol 2010 Apr;25(4):497-9. Epub 2010 Feb 5 doi: 10.1177/0883073809340918. PMID: 20139405
Giordano G, Gnetti L, Froio E, Ricci R
J Matern Fetal Neonatal Med 2005 May;17(5):349-52. doi: 10.1080/14767050500133425. PMID: 16147849
Wiley CA, Love S, Skoglund RR, Lampert PW
Acta Neuropathol 1987;72(4):369-76. doi: 10.1007/BF00687269. PMID: 3577692
Herva R, Leisti J, Kirkinen P, Seppänen U
Am J Med Genet 1985 Mar;20(3):431-9. doi: 10.1002/ajmg.1320200303. PMID: 3993672

Clinical prediction guides

Matej R, Botond G, László L, Kopitar-Jerala N, Rusina R, Budka H, Kovacs GG
Exp Neurol 2010 Sep;225(1):133-9. Epub 2010 Jun 15 doi: 10.1016/j.expneurol.2010.06.004. PMID: 20558162
Ertekin C, Sarica Y, Uçkardeşler L
Electroencephalogr Clin Neurophysiol 1983 Jan;55(1):24-33. doi: 10.1016/0013-4694(83)90143-8. PMID: 6185299
Beal MF, Richardson EP Jr
Arch Neurol 1981 Oct;38(10):630-3. doi: 10.1001/archneur.1981.00510100058008. PMID: 7295106

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