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Neurogenic arthrogryposis multiplex congenita(AMCN)

MedGen UID:
347218
•Concept ID:
C1859721
•
Disease or Syndrome
Synonyms: AMC, neurogenic type; Arthrogryposis multiplex congenita neurogenic type; Arthrogryposis Multiplex Congenita, Neurogenic Type; Neurogenic type of AMC
SNOMED CT: Neurogenic arthrogryposis multiplex congenita (715316005)
 
OMIM®: 208100

Definition

A form of arthrogryposis multiplex congenital characterised by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy. [from SNOMEDCT_US]

Professional guidelines

PubMed

Arthrogryposis: a review and approach to prenatal diagnosis.
Rink BD
Obstet Gynecol Surv 2011 Jun;66(6):369-77. doi: 10.1097/OGX.0b013e31822bf5bb. PMID: 21851751
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K
Neuropediatrics 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. PMID: 8677029
Comprehensive management of arthrogryposis multiplex congenita.
Thompson GH, Bilenker RM
Clin Orthop Relat Res 1985 Apr;(194):6-14. PMID: 3978935

Recent clinical studies

Etiology

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
Unusual clinical features in infantile Spinal Muscular Atrophies.
Guillot N, Cuisset JM, Cuvellier JC, Hurtevent JF, Joriot S, Vallee L
Brain Dev 2008 Mar;30(3):169-78. Epub 2007 Sep 4 doi: 10.1016/j.braindev.2007.07.008. PMID: 17804187
Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings.
Fedrizzi E, Botteon G, Inverno M, Ciceri E, D'Incerti L, Dworzak F
Pediatr Neurol 1993 Sep-Oct;9(5):343-8. doi: 10.1016/0887-8994(93)90102-i. PMID: 8292208
Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings.
Adams C, Becker LE, Murphy EG
Pediatr Neurosci 1988;14(2):97-102. doi: 10.1159/000120370. PMID: 3251214

Diagnosis

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Capri Y, Bourmance L, Dupont C, Saint-Frison MH, Guimiot F, Grotto S, Chitrit Y, Laquerrière A, Melki J
Clin Genet 2023 Nov;104(5):587-592. Epub 2023 Jul 11 doi: 10.1111/cge.14397. PMID: 37431644
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
Unusual clinical features in infantile Spinal Muscular Atrophies.
Guillot N, Cuisset JM, Cuvellier JC, Hurtevent JF, Joriot S, Vallee L
Brain Dev 2008 Mar;30(3):169-78. Epub 2007 Sep 4 doi: 10.1016/j.braindev.2007.07.008. PMID: 17804187
Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin.
Baker EM, Khorasgani MG, Gardner-Medwin D, Gholkar A, Griffiths PD
Neuropediatrics 1996 Feb;27(1):54-6. doi: 10.1055/s-2007-973749. PMID: 8677028
Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings.
Fedrizzi E, Botteon G, Inverno M, Ciceri E, D'Incerti L, Dworzak F
Pediatr Neurol 1993 Sep-Oct;9(5):343-8. doi: 10.1016/0887-8994(93)90102-i. PMID: 8292208

Prognosis

Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings.
Fedrizzi E, Botteon G, Inverno M, Ciceri E, D'Incerti L, Dworzak F
Pediatr Neurol 1993 Sep-Oct;9(5):343-8. doi: 10.1016/0887-8994(93)90102-i. PMID: 8292208
Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings.
Adams C, Becker LE, Murphy EG
Pediatr Neurosci 1988;14(2):97-102. doi: 10.1159/000120370. PMID: 3251214

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