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Anterior horn disorder

MedGen UID:
102314
Concept ID:
C0154681
Disease or Syndrome
Synonyms: Abnormal anterior horn cell morphology; Anterior horn disease
SNOMED CT: Anterior horn cell disease (85672005)
 
HPO: HP:0006802
Monarch Initiative: MONDO:0003182

Definition

Any anomaly of the anterior horn cell. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnterior horn disorder

Conditions with this feature

Spinal muscular atrophy, segmental
MedGen UID:
355801
Concept ID:
C1866774
Disease or Syndrome
Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive.
Lethal arthrogryposis-anterior horn cell disease syndrome
MedGen UID:
1677784
Concept ID:
C5193016
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.

Professional guidelines

PubMed

Li Y, Zeng H, Wei Y, Ma X, He Z
Hum Gene Ther 2023 Mar;34(5-6):180-191. doi: 10.1089/hum.2022.189. PMID: 36762938
Day JW, Howell K, Place A, Long K, Rossello J, Kertesz N, Nomikos G
BMC Pediatr 2022 Nov 3;22(1):632. doi: 10.1186/s12887-022-03671-x. PMID: 36329412Free PMC Article
Hemachudha T, Ugolini G, Wacharapluesadee S, Sungkarat W, Shuangshoti S, Laothamatas J
Lancet Neurol 2013 May;12(5):498-513. doi: 10.1016/S1474-4422(13)70038-3. PMID: 23602163

Recent clinical studies

Etiology

Suresh KV, Karius A, Wang KY, Sadowsky C, Sponseller PD
Top Spinal Cord Inj Rehabil 2022 Winter;28(1):34-41. Epub 2021 Aug 23 doi: 10.46292/sci21-00017. PMID: 35145333Free PMC Article

Diagnosis

Suresh KV, Karius A, Wang KY, Sadowsky C, Sponseller PD
Top Spinal Cord Inj Rehabil 2022 Winter;28(1):34-41. Epub 2021 Aug 23 doi: 10.46292/sci21-00017. PMID: 35145333Free PMC Article

Clinical prediction guides

Suresh KV, Karius A, Wang KY, Sadowsky C, Sponseller PD
Top Spinal Cord Inj Rehabil 2022 Winter;28(1):34-41. Epub 2021 Aug 23 doi: 10.46292/sci21-00017. PMID: 35145333Free PMC Article
Li Y, Remmel K
J Clin Neuromuscul Dis 2012 Jun;13(4):234-9. doi: 10.1097/CND.0b013e3182461afc. PMID: 22622169

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